ClinVar Miner

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

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Total variants: 168
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HGVS dbSNP
NM_152419.3(HGSNAT):c.1002C>T (p.Cys334=)
NM_152419.3(HGSNAT):c.1012+10T>A rs372410947
NM_152419.3(HGSNAT):c.1013-4G>A
NM_152419.3(HGSNAT):c.1023C>T (p.Asp341=) rs772729729
NM_152419.3(HGSNAT):c.1044G>A (p.Val348=)
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=) rs886062952
NM_152419.3(HGSNAT):c.108G>C (p.Ala36=) rs886062952
NM_152419.3(HGSNAT):c.1107T>C (p.Pro369=)
NM_152419.3(HGSNAT):c.1116A>G (p.Glu372=)
NM_152419.3(HGSNAT):c.1125C>G (p.Ala375=)
NM_152419.3(HGSNAT):c.1125C>T (p.Ala375=)
NM_152419.3(HGSNAT):c.1128+8A>G rs371054148
NM_152419.3(HGSNAT):c.1129-5C>T rs1220052687
NM_152419.3(HGSNAT):c.1129-7C>T
NM_152419.3(HGSNAT):c.118+10C>A
NM_152419.3(HGSNAT):c.118+8C>G
NM_152419.3(HGSNAT):c.1182G>C (p.Leu394=)
NM_152419.3(HGSNAT):c.1191G>C (p.Leu397=)
NM_152419.3(HGSNAT):c.1224C>T (p.Phe408=)
NM_152419.3(HGSNAT):c.1251-4C>T rs374882647
NM_152419.3(HGSNAT):c.1275T>C (p.Ile425=) rs1586751999
NM_152419.3(HGSNAT):c.1290G>A (p.Lys430=)
NM_152419.3(HGSNAT):c.12G>A (p.Ala4=) rs1018475767
NM_152419.3(HGSNAT):c.12G>T (p.Ala4=)
NM_152419.3(HGSNAT):c.1302C>T (p.Cys434=)
NM_152419.3(HGSNAT):c.1314T>C (p.Ala438=) rs776703067
NM_152419.3(HGSNAT):c.1326C>T (p.Ile442=)
NM_152419.3(HGSNAT):c.132A>G (p.Lys44=)
NM_152419.3(HGSNAT):c.1338G>C (p.Leu446=)
NM_152419.3(HGSNAT):c.1347C>T (p.Asp449=) rs752420375
NM_152419.3(HGSNAT):c.1359C>T (p.Tyr453=)
NM_152419.3(HGSNAT):c.1371T>A (p.Ser457=)
NM_152419.3(HGSNAT):c.1377+14G>A
NM_152419.3(HGSNAT):c.1377+7G>C
NM_152419.3(HGSNAT):c.1392C>T (p.Thr464=) rs767972481
NM_152419.3(HGSNAT):c.1401C>T (p.Ala467=)
NM_152419.3(HGSNAT):c.1410C>T (p.Pro470=) rs779611596
NM_152419.3(HGSNAT):c.1440C>T (p.Ile480=)
NM_152419.3(HGSNAT):c.144G>A (p.Glu48=)
NM_152419.3(HGSNAT):c.1464+9T>A
NM_152419.3(HGSNAT):c.1465-14G>A
NM_152419.3(HGSNAT):c.1465-5T>C
NM_152419.3(HGSNAT):c.1477C>T (p.Leu493=)
NM_152419.3(HGSNAT):c.1479A>G (p.Leu493=)
NM_152419.3(HGSNAT):c.1488C>T (p.Tyr496=)
NM_152419.3(HGSNAT):c.1495C>T (p.Arg499Trp) rs200238482
NM_152419.3(HGSNAT):c.1521C>T (p.Phe507=)
NM_152419.3(HGSNAT):c.1543-7A>G
NM_152419.3(HGSNAT):c.1545G>A (p.Gly515=)
NM_152419.3(HGSNAT):c.1613+8T>C
NM_152419.3(HGSNAT):c.1614-6T>C
NM_152419.3(HGSNAT):c.1617C>G (p.Ser539=)
NM_152419.3(HGSNAT):c.1617C>T (p.Ser539=) rs767625503
NM_152419.3(HGSNAT):c.1623G>A (p.Ser541=) rs372909374
NM_152419.3(HGSNAT):c.1629C>T (p.Val543=)
NM_152419.3(HGSNAT):c.1632T>C (p.Thr544=)
NM_152419.3(HGSNAT):c.1635G>A (p.Thr545=) rs775897635
NM_152419.3(HGSNAT):c.1644T>A (p.Ser548=) rs1586758163
NM_152419.3(HGSNAT):c.1650C>T (p.Ala550=) rs1586758179
NM_152419.3(HGSNAT):c.1680T>G (p.Val560=)
NM_152419.3(HGSNAT):c.168A>G (p.Leu56=)
NM_152419.3(HGSNAT):c.1698G>A (p.Leu566=)
NM_152419.3(HGSNAT):c.1704A>G (p.Thr568=)
NM_152419.3(HGSNAT):c.1727-17A>G
NM_152419.3(HGSNAT):c.1752C>T (p.Val584=) rs200678234
NM_152419.3(HGSNAT):c.1755C>T (p.Gly585=)
NM_152419.3(HGSNAT):c.1759G>A (p.Glu587Lys) rs202128129
NM_152419.3(HGSNAT):c.1779C>T (p.Phe593=)
NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys) rs867446205
NM_152419.3(HGSNAT):c.1803C>T (p.Asp601=)
NM_152419.3(HGSNAT):c.1815C>T (p.His605=)
NM_152419.3(HGSNAT):c.1821G>A (p.Glu607=)
NM_152419.3(HGSNAT):c.1836C>T (p.Asn612=)
NM_152419.3(HGSNAT):c.1839C>T (p.Ile613=)
NM_152419.3(HGSNAT):c.1842C>A (p.Val614=)
NM_152419.3(HGSNAT):c.1842C>T (p.Val614=)
NM_152419.3(HGSNAT):c.1845C>T (p.Ala615=)
NM_152419.3(HGSNAT):c.186T>C (p.Leu62=) rs1239460572
NM_152419.3(HGSNAT):c.1872C>T (p.Tyr624=)
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys) rs192857413
NM_152419.3(HGSNAT):c.1907G>A (p.Ter636=)
NM_152419.3(HGSNAT):c.199T>C (p.Leu67=) rs376924663
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile) rs202001245
NM_152419.3(HGSNAT):c.210C>T (p.Tyr70=)
NM_152419.3(HGSNAT):c.234+8T>A rs1205007842
NM_152419.3(HGSNAT):c.235-9T>G rs913764481
NM_152419.3(HGSNAT):c.240G>A (p.Leu80=)
NM_152419.3(HGSNAT):c.249T>C (p.Val83=)
NM_152419.3(HGSNAT):c.258C>T (p.Asn86=)
NM_152419.3(HGSNAT):c.273A>G (p.Pro91=)
NM_152419.3(HGSNAT):c.279A>C (p.Ala93=) rs766369405
NM_152419.3(HGSNAT):c.282G>A (p.Gly94=)
NM_152419.3(HGSNAT):c.285G>A (p.Lys95=) rs752466254
NM_152419.3(HGSNAT):c.288T>C (p.Pro96=)
NM_152419.3(HGSNAT):c.294T>C (p.Ala98=)
NM_152419.3(HGSNAT):c.306T>C (p.Ser102=)
NM_152419.3(HGSNAT):c.315C>T (p.Thr105=)
NM_152419.3(HGSNAT):c.321C>T (p.His107=) rs571883806
NM_152419.3(HGSNAT):c.339G>A (p.Leu113=)
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=) rs184883937
NM_152419.3(HGSNAT):c.366T>G (p.Val122=)
NM_152419.3(HGSNAT):c.369T>C (p.Cys123=)
NM_152419.3(HGSNAT):c.372-8G>A
NM_152419.3(HGSNAT):c.39G>C (p.Leu13=)
NM_152419.3(HGSNAT):c.405T>C (p.Tyr135=)
NM_152419.3(HGSNAT):c.411C>G (p.Leu137=)
NM_152419.3(HGSNAT):c.411C>T (p.Leu137=)
NM_152419.3(HGSNAT):c.412T>C (p.Leu138=)
NM_152419.3(HGSNAT):c.453T>C (p.Cys151=)
NM_152419.3(HGSNAT):c.45G>A (p.Ala15=)
NM_152419.3(HGSNAT):c.479T>C (p.Val160Ala) rs369469113
NM_152419.3(HGSNAT):c.483T>C (p.Asp161=)
NM_152419.3(HGSNAT):c.48C>G (p.Ser16=)
NM_152419.3(HGSNAT):c.494-4C>A
NM_152419.3(HGSNAT):c.495T>C (p.Pro165=)
NM_152419.3(HGSNAT):c.543C>T (p.Ser181=)
NM_152419.3(HGSNAT):c.558G>A (p.Leu186=)
NM_152419.3(HGSNAT):c.559T>C (p.Leu187=)
NM_152419.3(HGSNAT):c.563+7T>C
NM_152419.3(HGSNAT):c.563+8A>G
NM_152419.3(HGSNAT):c.564-10T>A
NM_152419.3(HGSNAT):c.564-8A>G
NM_152419.3(HGSNAT):c.576T>C (p.Phe192=) rs1563366828
NM_152419.3(HGSNAT):c.591T>C (p.Ser197=)
NM_152419.3(HGSNAT):c.60C>T (p.Ala20=)
NM_152419.3(HGSNAT):c.633+20G>C
NM_152419.3(HGSNAT):c.634-8T>A
NM_152419.3(HGSNAT):c.652A>C (p.Arg218=) rs541981232
NM_152419.3(HGSNAT):c.654G>A (p.Arg218=)
NM_152419.3(HGSNAT):c.666C>T (p.Leu222=)
NM_152419.3(HGSNAT):c.66G>A (p.Leu22=)
NM_152419.3(HGSNAT):c.672T>C (p.Gly224=)
NM_152419.3(HGSNAT):c.672T>G (p.Gly224=)
NM_152419.3(HGSNAT):c.675T>C (p.Asp225=)
NM_152419.3(HGSNAT):c.690G>A (p.Thr230=)
NM_152419.3(HGSNAT):c.699A>G (p.Leu233=) rs756091468
NM_152419.3(HGSNAT):c.69G>A (p.Leu23=)
NM_152419.3(HGSNAT):c.708G>A (p.Leu236=)
NM_152419.3(HGSNAT):c.711G>A (p.Pro237=)
NM_152419.3(HGSNAT):c.720C>T (p.Leu240=)
NM_152419.3(HGSNAT):c.726C>T (p.Ser242=)
NM_152419.3(HGSNAT):c.72C>T (p.Ala24=)
NM_152419.3(HGSNAT):c.735C>G (p.Thr245=)
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=) rs775663094
NM_152419.3(HGSNAT):c.743+7G>A
NM_152419.3(HGSNAT):c.744-10C>A
NM_152419.3(HGSNAT):c.744-5_744-3del
NM_152419.3(HGSNAT):c.765C>T (p.Val255=) rs137963729
NM_152419.3(HGSNAT):c.768T>C (p.Phe256=)
NM_152419.3(HGSNAT):c.78C>T (p.Gly26=)
NM_152419.3(HGSNAT):c.821-9G>T
NM_152419.3(HGSNAT):c.837C>T (p.Asp279=) rs1277158595
NM_152419.3(HGSNAT):c.840C>T (p.Leu280=)
NM_152419.3(HGSNAT):c.849G>A (p.Pro283=)
NM_152419.3(HGSNAT):c.851+10C>T rs778394235
NM_152419.3(HGSNAT):c.851+9C>T
NM_152419.3(HGSNAT):c.852-7T>G
NM_152419.3(HGSNAT):c.87G>C (p.Ser29=) rs1461385635
NM_152419.3(HGSNAT):c.885A>G (p.Leu295=)
NM_152419.3(HGSNAT):c.888G>A (p.Ser296=) rs780309535
NM_152419.3(HGSNAT):c.90G>C (p.Gly30=)
NM_152419.3(HGSNAT):c.90G>T (p.Gly30=)
NM_152419.3(HGSNAT):c.928T>C (p.Leu310=) rs1358940142
NM_152419.3(HGSNAT):c.933G>T (p.Leu311=)
NM_152419.3(HGSNAT):c.945A>G (p.Ala315=)
NM_152419.3(HGSNAT):c.951G>A (p.Arg317=)
NM_152419.3(HGSNAT):c.987G>C (p.Val329=)
NM_152419.3(HGSNAT):c.99C>G (p.Ala33=) rs1586689721

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