ClinVar Miner

List of variants studied for Nonsyndromic genetic hearing loss by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr) rs202080237 0.00011
NM_005422.4(TECTA):c.5488G>A (p.Val1830Met) rs189181502 0.00011
NM_000260.4(MYO7A):c.2371C>T (p.Arg791Cys) rs782165016 0.00002
NM_000260.4(MYO7A):c.2187+1G>A rs111033290 0.00001
NM_005422.4(TECTA):c.5431_5433del (p.Met1811del)

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