ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 1A by Institut Pasteur du Maroc

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593 0.00001
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter) rs397516875
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg) rs786204597

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