ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 26

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NC_000004.12:g.143428960_143495936dup
NM_002039.4(GAB1):c.1460_1462del (p.Met487_Gln488delinsLys) rs2531268283
NM_002039.4(GAB1):c.347G>A (p.Gly116Glu) rs1553950635

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