ClinVar Miner

List of variants in gene SLC52A2 studied for Werdnig-Hoffmann disease

Included ClinVar conditions (11):
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Gene type:
ClinVar version:
Total variants: 102
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HGVS dbSNP
NM_001253816.1(SLC52A2):c.-110-1G>A rs1554853682
NM_001253816.1(SLC52A2):c.1001+6C>T rs139398461
NM_001253816.1(SLC52A2):c.1016T>C (p.Leu339Pro) rs148234606
NM_001253816.1(SLC52A2):c.1024C>T (p.Leu342Phe)
NM_001253816.1(SLC52A2):c.1039G>A (p.Val347Met) rs145502954
NM_001253816.1(SLC52A2):c.1064C>A (p.Ala355Glu)
NM_001253816.1(SLC52A2):c.1066C>T (p.Leu356=) rs138107380
NM_001253816.1(SLC52A2):c.1076_1079del (p.Leu359fs)
NM_001253816.1(SLC52A2):c.1088C>T (p.Pro363Leu) rs797045202
NM_001253816.1(SLC52A2):c.1089G>A (p.Pro363=) rs146292053
NM_001253816.1(SLC52A2):c.1094del (p.Leu365fs) rs1564657463
NM_001253816.1(SLC52A2):c.1106C>T (p.Ser369Leu) rs138160033
NM_001253816.1(SLC52A2):c.1113G>A (p.Gly371=) rs149575570
NM_001253816.1(SLC52A2):c.1118T>G (p.Val373Gly) rs200245353
NM_001253816.1(SLC52A2):c.1122C>T (p.Leu374=) rs144290224
NM_001253816.1(SLC52A2):c.1152C>T (p.Gly384=) rs782168938
NM_001253816.1(SLC52A2):c.1163A>G (p.Tyr388Cys)
NM_001253816.1(SLC52A2):c.116A>G (p.Lys39Arg)
NM_001253816.1(SLC52A2):c.116_130+83del rs1564653965
NM_001253816.1(SLC52A2):c.1178C>T (p.Ala393Val) rs782396304
NM_001253816.1(SLC52A2):c.1181G>A (p.Ser394Asn) rs1564657964
NM_001253816.1(SLC52A2):c.1204C>T (p.Arg402Trp)
NM_001253816.1(SLC52A2):c.1209G>A (p.Pro403=) rs374612342
NM_001253816.1(SLC52A2):c.1227C>T (p.Gly409=)
NM_001253816.1(SLC52A2):c.1228G>A (p.Val410Met) rs782298557
NM_001253816.1(SLC52A2):c.1240G>A (p.Val414Met) rs1554854625
NM_001253816.1(SLC52A2):c.1255G>A (p.Gly419Ser) rs397514658
NM_001253816.1(SLC52A2):c.1258G>A (p.Ala420Thr) rs368924997
NM_001253816.1(SLC52A2):c.1259C>T (p.Ala420Val) rs1554854637
NM_001253816.1(SLC52A2):c.1267A>G (p.Met423Val) rs560659799
NM_001253816.1(SLC52A2):c.126A>C (p.Pro42=) rs527404024
NM_001253816.1(SLC52A2):c.1277C>T (p.Pro426Leu) rs201673476
NM_001253816.1(SLC52A2):c.1280C>T (p.Thr427Ile)
NM_001253816.1(SLC52A2):c.1289A>G (p.Tyr430Cys) rs781873022
NM_001253816.1(SLC52A2):c.1307G>A (p.Arg436Lys)
NM_001253816.1(SLC52A2):c.131-1G>C
NM_001253816.1(SLC52A2):c.1323C>A (p.Asp441Glu) rs1554854664
NM_001253816.1(SLC52A2):c.13A>T (p.Thr5Ser)
NM_001253816.1(SLC52A2):c.143C>T (p.Pro48Leu) rs1554853840
NM_001253816.1(SLC52A2):c.144C>G (p.Pro48=) rs1554853841
NM_001253816.1(SLC52A2):c.155C>T (p.Ser52Phe) rs397514657
NM_001253816.1(SLC52A2):c.217C>T (p.Pro73Ser)
NM_001253816.1(SLC52A2):c.228C>T (p.Asp76=) rs111588500
NM_001253816.1(SLC52A2):c.280C>G (p.Leu94Val)
NM_001253816.1(SLC52A2):c.297G>C (p.Trp99Cys) rs782591841
NM_001253816.1(SLC52A2):c.302A>G (p.His101Arg)
NM_001253816.1(SLC52A2):c.319G>A (p.Gly107Arg) rs1330914046
NM_001253816.1(SLC52A2):c.339_341CTT[1] (p.Phe114del) rs782498327
NM_001253816.1(SLC52A2):c.353C>A (p.Ala118Asp) rs117500243
NM_001253816.1(SLC52A2):c.359T>C (p.Val120Ala) rs74445699
NM_001253816.1(SLC52A2):c.363G>C (p.Leu121=) rs1554853933
NM_001253816.1(SLC52A2):c.368T>C (p.Leu123Pro) rs397514538
NM_001253816.1(SLC52A2):c.383C>T (p.Ser128Leu) rs374071862
NM_001253816.1(SLC52A2):c.397C>A (p.Leu133Met)
NM_001253816.1(SLC52A2):c.401C>T (p.Pro134Leu)
NM_001253816.1(SLC52A2):c.415C>T (p.Leu139=) rs1554853955
NM_001253816.1(SLC52A2):c.424C>T (p.Arg142Cys)
NM_001253816.1(SLC52A2):c.425G>A (p.Arg142His) rs560681538
NM_001253816.1(SLC52A2):c.478G>A (p.Val160Met) rs141953803
NM_001253816.1(SLC52A2):c.487C>T (p.Leu163=) rs781887989
NM_001253816.1(SLC52A2):c.505C>T (p.Arg169Cys) rs782345472
NM_001253816.1(SLC52A2):c.511G>A (p.Glu171Lys)
NM_001253816.1(SLC52A2):c.535G>A (p.Gly179Ser) rs151081625
NM_001253816.1(SLC52A2):c.541C>T (p.Pro181Ser)
NM_001253816.1(SLC52A2):c.551del (p.Pro184fs) rs1554854044
NM_001253816.1(SLC52A2):c.555C>T (p.Leu185=) rs74370046
NM_001253816.1(SLC52A2):c.581G>A (p.Ser194Asn)
NM_001253816.1(SLC52A2):c.602C>A (p.Thr201Asn)
NM_001253816.1(SLC52A2):c.605C>T (p.Ala202Val) rs1166880307
NM_001253816.1(SLC52A2):c.606C>T (p.Ala202=) rs187632310
NM_001253816.1(SLC52A2):c.616G>A (p.Ala206Thr)
NM_001253816.1(SLC52A2):c.63G>T (p.Met21Ile) rs764635442
NM_001253816.1(SLC52A2):c.643C>T (p.Leu215=) rs147954962
NM_001253816.1(SLC52A2):c.669T>C (p.Ser223=) rs1554854127
NM_001253816.1(SLC52A2):c.679G>A (p.Gly227Arg)
NM_001253816.1(SLC52A2):c.68C>A (p.Ser23Tyr) rs1564653909
NM_001253816.1(SLC52A2):c.700C>T (p.Gln234Ter) rs797045200
NM_001253816.1(SLC52A2):c.709G>C (p.Ala237Pro)
NM_001253816.1(SLC52A2):c.751C>T (p.Gln251Ter)
NM_001253816.1(SLC52A2):c.806A>G (p.Tyr269Cys) rs372057075
NM_001253816.1(SLC52A2):c.808C>T (p.Gln270Ter) rs375088539
NM_001253816.1(SLC52A2):c.824G>A (p.Arg275His) rs144912258
NM_001253816.1(SLC52A2):c.824G>T (p.Arg275Leu) rs144912258
NM_001253816.1(SLC52A2):c.835C>T (p.Leu279=) rs782298419
NM_001253816.1(SLC52A2):c.83A>G (p.Asn28Ser)
NM_001253816.1(SLC52A2):c.84T>C (p.Asn28=) rs200102613
NM_001253816.1(SLC52A2):c.851C>A (p.Ala284Asp) rs398123067
NM_001253816.1(SLC52A2):c.853G>A (p.Ala285Thr)
NM_001253816.1(SLC52A2):c.863C>T (p.Ala288Val) rs764545993
NM_001253816.1(SLC52A2):c.864G>A (p.Ala288=) rs782702240
NM_001253816.1(SLC52A2):c.865C>T (p.Leu289=) rs797045201
NM_001253816.1(SLC52A2):c.888C>T (p.Ala296=) rs375399467
NM_001253816.1(SLC52A2):c.889G>T (p.Val297Leu)
NM_001253816.1(SLC52A2):c.897C>G (p.Ser299Arg)
NM_001253816.1(SLC52A2):c.914A>G (p.Tyr305Cys) rs398123068
NM_001253816.1(SLC52A2):c.916G>A (p.Gly306Arg) rs398124641
NM_001253816.1(SLC52A2):c.920G>A (p.Arg307His)
NM_001253816.1(SLC52A2):c.926C>T (p.Ala309Val) rs1554854307
NM_001253816.1(SLC52A2):c.92G>C (p.Trp31Ser) rs797045199
NM_001253816.1(SLC52A2):c.935T>C (p.Leu312Pro) rs754320812
NM_001253816.1(SLC52A2):c.948G>A (p.Leu316=)
NM_001253816.1(SLC52A2):c.951C>T (p.Gly317=) rs543461928

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