List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 1A by Baylor Genetics

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Total variants: 4

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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.416G>A (p.Ser139Asn)	rs76434661	0.00047
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	rs104894413	0.00001
NM_004004.6(GJB2):c.235del (p.Leu79fs)	rs80338943

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