List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 1A by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	rs80338945	0.00066
NM_004004.6(GJB2):c.-22-2A>C	rs201895089	0.00056
NM_004004.6(GJB2):c.-23+1G>A	rs80338940	0.00017
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)	rs104894398	0.00013
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	rs104894413	0.00001
NM_004004.6(GJB2):c.235del (p.Leu79fs)	rs80338943
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939

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