ClinVar Miner

List of variants in gene HGSNAT reported as uncertain significance for not provided

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys) rs192857413 0.00082
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.259G>A (p.Val87Ile) rs374287774 0.00004
NM_152419.3(HGSNAT):c.317A>G (p.Gln106Arg) rs368082613 0.00003
NM_152419.3(HGSNAT):c.332T>C (p.Leu111Pro) rs371296485 0.00001
NM_152419.3(HGSNAT):c.493+5G>A rs781408761 0.00001
NM_152419.3(HGSNAT):c.1202G>C (p.Gly401Ala) rs751563675
NM_152419.3(HGSNAT):c.1286G>T (p.Gly429Val)
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys) rs763301637
NM_152419.3(HGSNAT):c.1331_1333del (p.Arg444del) rs1804568686
NM_152419.3(HGSNAT):c.1337T>A (p.Leu446Gln) rs1804569335
NM_152419.3(HGSNAT):c.137A>T (p.His46Leu) rs2130677199
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962
NM_152419.3(HGSNAT):c.740G>C (p.Arg247Thr) rs2130746279

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