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

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Total variants: 9

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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.-23+1G>A	rs80338940	0.00017
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys)	rs371024165	0.00017
NM_004004.6(GJB2):c.299_300del (p.His100fs)	rs111033204	0.00003
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)	rs111033253
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939
NM_004004.6(GJB2):c.399G>A (p.Trp133Ter)
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)	rs111033401

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