List of variants reported as uncertain significance for Autosomal recessive nonsyndromic hearing loss 1A by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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Total variants: 13

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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.503A>G (p.Lys168Arg)	rs200104362	0.00066
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)	rs201004645	0.00014
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)	rs375599392	0.00004
NM_004004.6(GJB2):c.584T>C (p.Met195Thr)	rs1378679640	0.00001
NM_004004.6(GJB2):c.60T>G (p.Ile20Met)	rs749693224	0.00001
NM_004004.6(GJB2):c.260C>T (p.Pro87Leu)	rs1555341946
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)	rs111033225
NM_004004.6(GJB2):c.475G>A (p.Asp159Asn)	rs373684994
NM_004004.6(GJB2):c.527A>G (p.Asn176Ser)	rs1555341840
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)	rs80338941
NM_004004.6(GJB2):c.585G>A (p.Met195Ile)	rs570552952

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