List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 1A by 3billion

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00966
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00354
NM_004004.6(GJB2):c.167del (p.Leu56fs)	rs80338942	0.00058
NM_004004.6(GJB2):c.-23+1G>A	rs80338940	0.00017
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	rs104894396	0.00002
NM_004004.6(GJB2):c.176_191del (p.Gly59fs)	rs750188782
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)	rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs)	rs80338943
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)	rs104894409
NM_004004.6(GJB2):c.334_335del (p.Lys112fs)	rs756484720
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939

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