List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 1A by Genome-Nilou Lab

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00354
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)	rs773528125	0.00003
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)	rs80338947
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939

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