ClinVar Miner

List of variants studied for Sensorineural hearing loss disorder; Premature ovarian insufficiency by Reproductive Development, Murdoch Childrens Research Institute

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015971.4(MRPS7):c.536G>A (p.Arg179His) rs752619610 0.00003
NM_003201.3(TFAM):c.694C>T (p.Arg232Cys) rs774009575 0.00001
NM_015971.4(MRPS7):c.373A>T (p.Lys125Ter)
NM_052963.3(TOP1MT):c.1115G>C (p.Arg372Pro) rs778858235

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