List of variants reported as pathogenic for autosomal recessive nonsyndromic hearing loss 1A by Counsyl

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys)	rs371024165	0.00017
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter)	rs397516874	0.00008
NM_004004.6(GJB2):c.1A>G (p.Met1Val)	rs111033293	0.00004
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)	rs111033297	0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	rs80338950	0.00003
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)	rs786204491	0.00002
NM_004004.6(GJB2):c.269dup (p.Val91fs)	rs730880338	0.00001
NM_004004.6(GJB2):c.250G>A (p.Val84Met)	rs104894409
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)	rs104894409
NM_004004.6(GJB2):c.250G>T (p.Val84Leu)	rs104894409
NM_004004.6(GJB2):c.327_328delinsA (p.Glu110fs)	rs1555341931
NM_004004.6(GJB2):c.72G>A (p.Trp24Ter)	rs769486081
NM_004004.6(GJB2):c.95G>A (p.Arg32His)	rs111033190
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)	rs111033401

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