ClinVar Miner

List of variants in gene HGSNAT reported as uncertain significance for Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73

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Total variants: 93
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HGVS dbSNP
NC_000008.10:g.(?_43013698)_(43054712_?)dup
NC_000008.11:g.(?_43139449)_(43203827_?)dup
NC_000008.11:g.(?_43140487)_(43199579_?)dup
NM_152419.3(HGSNAT):c.1027G>T (p.Val343Leu)
NM_152419.3(HGSNAT):c.1042G>A (p.Val348Met) rs1318217031
NM_152419.3(HGSNAT):c.1052G>A (p.Arg351Gln)
NM_152419.3(HGSNAT):c.1052G>T (p.Arg351Leu)
NM_152419.3(HGSNAT):c.1099G>A (p.Ala367Thr) rs1476919967
NM_152419.3(HGSNAT):c.110C>T (p.Pro37Leu)
NM_152419.3(HGSNAT):c.1112C>T (p.Pro371Leu)
NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=) rs770462636
NM_152419.3(HGSNAT):c.1128G>T (p.Ser376=)
NM_152419.3(HGSNAT):c.1151G>T (p.Arg384Leu)
NM_152419.3(HGSNAT):c.1228C>A (p.Leu410Met)
NM_152419.3(HGSNAT):c.1231C>A (p.Pro411Thr)
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser) rs201346206
NM_152419.3(HGSNAT):c.1255T>C (p.Tyr419His)
NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser)
NM_152419.3(HGSNAT):c.1316C>G (p.Ala439Gly)
NM_152419.3(HGSNAT):c.1392C>A (p.Thr464=)
NM_152419.3(HGSNAT):c.1411G>C (p.Glu471Gln)
NM_152419.3(HGSNAT):c.1420C>G (p.Leu474Val)
NM_152419.3(HGSNAT):c.1441G>T (p.Val481Leu)
NM_152419.3(HGSNAT):c.145C>A (p.Leu49Met)
NM_152419.3(HGSNAT):c.1465-10T>C
NM_152419.3(HGSNAT):c.1492G>C (p.Ala498Pro)
NM_152419.3(HGSNAT):c.1542+4dup rs1401818080
NM_152419.3(HGSNAT):c.154G>A (p.Asp52Asn)
NM_152419.3(HGSNAT):c.1558G>A (p.Ala520Thr)
NM_152419.3(HGSNAT):c.1565C>T (p.Thr522Met)
NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys)
NM_152419.3(HGSNAT):c.1634C>A (p.Thr545Lys) rs377050184
NM_152419.3(HGSNAT):c.1634C>T (p.Thr545Met)
NM_152419.3(HGSNAT):c.1643C>T (p.Ser548Phe)
NM_152419.3(HGSNAT):c.1687_1688delinsAG (p.Val563Arg) rs1563386838
NM_152419.3(HGSNAT):c.1700G>A (p.Trp567Ter)
NM_152419.3(HGSNAT):c.1721A>G (p.Tyr574Cys)
NM_152419.3(HGSNAT):c.1723C>T (p.Pro575Ser)
NM_152419.3(HGSNAT):c.1768G>A (p.Glu590Lys)
NM_152419.3(HGSNAT):c.1772A>C (p.Asn591Thr)
NM_152419.3(HGSNAT):c.1786C>T (p.Gln596Ter)
NM_152419.3(HGSNAT):c.1793A>G (p.Lys598Arg)
NM_152419.3(HGSNAT):c.1796T>C (p.Leu599Pro)
NM_152419.3(HGSNAT):c.1805A>G (p.Asn602Ser)
NM_152419.3(HGSNAT):c.1850C>T (p.Ala617Val)
NM_152419.3(HGSNAT):c.1858G>A (p.Val620Met)
NM_152419.3(HGSNAT):c.1886A>G (p.Lys629Arg)
NM_152419.3(HGSNAT):c.204C>A (p.Thr68=)
NM_152419.3(HGSNAT):c.232C>G (p.His78Asp)
NM_152419.3(HGSNAT):c.234C>T (p.His78=)
NM_152419.3(HGSNAT):c.235T>C (p.Cys79Arg)
NM_152419.3(HGSNAT):c.278C>G (p.Ala93Gly)
NM_152419.3(HGSNAT):c.284A>C (p.Lys95Thr)
NM_152419.3(HGSNAT):c.284A>G (p.Lys95Arg)
NM_152419.3(HGSNAT):c.317A>G (p.Gln106Arg)
NM_152419.3(HGSNAT):c.322G>A (p.Gly108Arg)
NM_152419.3(HGSNAT):c.326C>A (p.Ser109Tyr)
NM_152419.3(HGSNAT):c.32T>C (p.Leu11Pro)
NM_152419.3(HGSNAT):c.338T>C (p.Leu113Pro) rs765211666
NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup) rs961025173
NM_152419.3(HGSNAT):c.371G>A (p.Arg124Lys)
NM_152419.3(HGSNAT):c.386T>C (p.Phe129Ser)
NM_152419.3(HGSNAT):c.409C>T (p.Leu137Phe)
NM_152419.3(HGSNAT):c.444A>C (p.Glu148Asp)
NM_152419.3(HGSNAT):c.452G>C (p.Cys151Ser)
NM_152419.3(HGSNAT):c.469G>A (p.Glu157Lys)
NM_152419.3(HGSNAT):c.493C>T (p.Pro165Ser)
NM_152419.3(HGSNAT):c.515T>C (p.Ile172Thr)
NM_152419.3(HGSNAT):c.533T>G (p.Ile178Ser)
NM_152419.3(HGSNAT):c.540A>G (p.Ile180Met)
NM_152419.3(HGSNAT):c.616G>A (p.Asp206Asn) rs367799225
NM_152419.3(HGSNAT):c.619C>T (p.Arg207Cys)
NM_152419.3(HGSNAT):c.636G>T (p.Glu212Asp)
NM_152419.3(HGSNAT):c.659A>G (p.Asp220Gly)
NM_152419.3(HGSNAT):c.664C>T (p.Leu222Phe)
NM_152419.3(HGSNAT):c.667G>C (p.Asp223His)
NM_152419.3(HGSNAT):c.682C>A (p.Pro228Thr)
NM_152419.3(HGSNAT):c.691T>C (p.Trp231Arg)
NM_152419.3(HGSNAT):c.701C>G (p.Ser234Cys) rs1586725294
NM_152419.3(HGSNAT):c.704C>T (p.Ala235Val)
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962
NM_152419.3(HGSNAT):c.713C>T (p.Pro238Leu) rs1218261294
NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys)
NM_152419.3(HGSNAT):c.7G>C (p.Gly3Arg)
NM_152419.3(HGSNAT):c.826A>G (p.Thr276Ala)
NM_152419.3(HGSNAT):c.841G>A (p.Val281Met)
NM_152419.3(HGSNAT):c.852G>T (p.Trp284Cys)
NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu)
NM_152419.3(HGSNAT):c.89G>A (p.Gly30Glu) rs1490698793
NM_152419.3(HGSNAT):c.940A>G (p.Ile314Val)
NM_152419.3(HGSNAT):c.981_983del (p.Ile328del) rs752374933
NM_152419.3(HGSNAT):c.983T>C (p.Ile328Thr)
NM_152419.3(HGSNAT):c.98C>T (p.Ala33Val)

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