ClinVar Miner

List of variants in gene HGSNAT reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser) rs201346206 0.00038
NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys) rs369292480 0.00011
NM_152419.3(HGSNAT):c.1150C>G (p.Arg384Gly)
NM_152419.3(HGSNAT):c.1250+5G>A
NM_152419.3(HGSNAT):c.1283T>G (p.Phe428Cys) rs777276988
NM_152419.3(HGSNAT):c.1327G>A (p.Asp443Asn)
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys) rs763301637
NM_152419.3(HGSNAT):c.1907G>T (p.Ter636Leu)
NM_152419.3(HGSNAT):c.776A>G (p.Tyr259Cys) rs753843717
NM_152419.3(HGSNAT):c.850T>C (p.Trp284Arg)

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