List of variants reported as pathogenic for Autosomal dominant nonsyndromic hearing loss 3A by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 5

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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.427C>T (p.Arg143Trp)	rs80338948	0.00019
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	rs80338950	0.00003
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	rs104894396	0.00002
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939

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