ClinVar Miner

List of variants reported as likely benign for Autosomal recessive nonsyndromic hearing loss 1A by Natera, Inc.

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.-6T>A rs148136545 0.00355
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637 0.00012
NM_004004.6(GJB2):c.675A>T (p.Pro225=) rs563151740 0.00010
NM_004004.6(GJB2):c.177C>T (p.Gly59=) rs375122728 0.00007
NM_004004.6(GJB2):c.24G>A (p.Thr8=) rs533231493 0.00007
NM_004004.6(GJB2):c.510C>T (p.Asn170=) rs763068053 0.00002
NM_004004.6(GJB2):c.456C>T (p.Tyr152=) rs111033420 0.00001
NM_004004.6(GJB2):c.108C>T (p.Leu36=) rs138547875

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