ClinVar Miner

List of variants in gene HGSNAT studied for not specified

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=) rs1126058 0.99080
NM_152419.3(HGSNAT):c.1377+20G>A rs17603428 0.24049
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_152419.3(HGSNAT):c.493+46G>T rs72647302 0.03382
NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile) rs73675469 0.02491
NM_152419.3(HGSNAT):c.1727-9C>G rs76750342 0.01160
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988 0.00633
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=) rs182393180 0.00177
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys) rs192857413 0.00082
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=) rs184883937 0.00077
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.204C>T (p.Thr68=) rs199816365
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962
NM_152419.3(HGSNAT):c.776A>G (p.Tyr259Cys) rs753843717
NM_152419.3(HGSNAT):c.850T>C (p.Trp284Arg)

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