Tag

Congenital

7 genetic variants with this tag.

RSID	Gene	Description	Category
rs80338939	GJB2 35delG	The most common cause of autosomal recessive nonsyndromic hearing loss in Eur...	Brain & Mental Health	Hearing Loss Sensorineural Congenital	Established
rs72474224	GJB2 V37I	Connexin 26 missense variant causing partial loss of cochlear gap junction fu...	Brain & Mental Health	Hearing Loss Sensorineural Congenital	Established
rs104894396	GJB2 W24X	Stop-gain mutation eliminating connexin 26 function; the most common GJB2 dea...	Brain & Mental Health	Hearing Loss Sensorineural Congenital	Established
rs80338942	GJB2 167delT	The most common GJB2 deafness allele in the Ashkenazi Jewish population (~4% ...	Brain & Mental Health	Hearing Loss Sensorineural Congenital	Established
rs35887543	GJB2 c.235delC	Frameshift deletion eliminating connexin 26 function; the most common GJB2 de...	Brain & Mental Health	Hearing Loss Sensorineural Congenital	Established
rs727503493	TMPRSS3 c.208delC (p.His70Thrfs*19)	Frameshift deletion in TMPRSS3 causing premature stop at codon 88; a severe p...	Brain & Mental Health	Hearing Loss Sensorineural Carrier Status	Strong
rs111033253	TMPRSS3 p.Ala306Thr (A306T)	Hypomorphic missense variant in the TMPRSS3 serine protease catalytic domain;...	Brain & Mental Health	Hearing Loss Sensorineural Carrier Status	Strong