ClinVar Miner

List of variants reported as uncertain significance for Werdnig-Hoffmann disease by Invitae

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 123
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HGVS dbSNP
NC_000008.10:g.(?_144990325)_(145700664_?)dup
NC_000020.10:g.(?_741650)_(746438_?)dup
NM_000044.6(AR):c.1442A>G (p.Tyr481Cys) rs1555970006
NM_000044.6(AR):c.1705G>T (p.Gly569Trp) rs1555982864
NM_000044.6(AR):c.1736G>C (p.Ser579Thr) rs1555982879
NM_000044.6(AR):c.1844G>C (p.Cys615Ser)
NM_000044.6(AR):c.2021T>C (p.Phe674Ser)
NM_000044.6(AR):c.2068C>A (p.His690Asn)
NM_000044.6(AR):c.2121A>C (p.Glu707Asp) rs1555995856
NM_000044.6(AR):c.2437C>T (p.Leu813Phe) rs1555997625
NM_000044.6(AR):c.2678C>A (p.Pro893Gln)
NM_000044.6(AR):c.2696T>C (p.Ile899Thr) rs1555998105
NM_000044.6(AR):c.2752del (p.His918fs)
NM_000044.6(AR):c.949A>G (p.Thr317Ala) rs1555969722
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.1076_1079del (p.Leu359fs)
NM_001253816.1(SLC52A2):c.1088C>T (p.Pro363Leu) rs797045202
NM_001253816.1(SLC52A2):c.1094del (p.Leu365fs) rs1564657463
NM_001253816.1(SLC52A2):c.1106C>T (p.Ser369Leu) rs138160033
NM_001253816.1(SLC52A2):c.1118T>G (p.Val373Gly) rs200245353
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.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.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.1259C>T (p.Ala420Val) rs1554854637
NM_001253816.1(SLC52A2):c.1267A>G (p.Met423Val) rs560659799
NM_001253816.1(SLC52A2):c.1277C>T (p.Pro426Leu) rs201673476
NM_001253816.1(SLC52A2):c.1280C>T (p.Thr427Ile)
NM_001253816.1(SLC52A2):c.1307G>A (p.Arg436Lys)
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.217C>T (p.Pro73Ser)
NM_001253816.1(SLC52A2):c.280C>G (p.Leu94Val)
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.397C>A (p.Leu133Met)
NM_001253816.1(SLC52A2):c.401C>T (p.Pro134Leu)
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.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.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.616G>A (p.Ala206Thr)
NM_001253816.1(SLC52A2):c.63G>T (p.Met21Ile) rs764635442
NM_001253816.1(SLC52A2):c.679G>A (p.Gly227Arg)
NM_001253816.1(SLC52A2):c.68C>A (p.Ser23Tyr) rs1564653909
NM_001253816.1(SLC52A2):c.709G>C (p.Ala237Pro)
NM_001253816.1(SLC52A2):c.806A>G (p.Tyr269Cys) rs372057075
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.83A>G (p.Asn28Ser)
NM_001253816.1(SLC52A2):c.853G>A (p.Ala285Thr)
NM_001253816.1(SLC52A2):c.863C>T (p.Ala288Val) rs764545993
NM_001253816.1(SLC52A2):c.889G>T (p.Val297Leu)
NM_001253816.1(SLC52A2):c.897C>G (p.Ser299Arg)
NM_001253816.1(SLC52A2):c.920G>A (p.Arg307His)
NM_001253816.1(SLC52A2):c.926C>T (p.Ala309Val) rs1554854307
NM_001253816.1(SLC52A2):c.935T>C (p.Leu312Pro) rs754320812
NM_001253816.1(SLC52A2):c.948G>A (p.Leu316=)
NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys) rs267606686
NM_033409.4(SLC52A3):c.1102G>A (p.Val368Met)
NM_033409.4(SLC52A3):c.1149G>A (p.Met383Ile) rs763995965
NM_033409.4(SLC52A3):c.1160C>T (p.Pro387Leu)
NM_033409.4(SLC52A3):c.1201G>A (p.Ala401Thr)
NM_033409.4(SLC52A3):c.1238T>C (p.Val413Ala) rs267606687
NM_033409.4(SLC52A3):c.1270C>T (p.Leu424Phe) rs369230517
NM_033409.4(SLC52A3):c.1311G>C (p.Gln437His) rs1555783468
NM_033409.4(SLC52A3):c.1326C>A (p.Leu442=)
NM_033409.4(SLC52A3):c.1327_1338del (p.Gly443_Leu446del)
NM_033409.4(SLC52A3):c.1334T>C (p.Leu445Pro)
NM_033409.4(SLC52A3):c.134C>T (p.Thr45Met) rs776065357
NM_033409.4(SLC52A3):c.135G>A (p.Thr45=)
NM_033409.4(SLC52A3):c.1363C>T (p.Arg455Trp) rs939576852
NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu) rs145431028
NM_033409.4(SLC52A3):c.1373C>A (p.Ser458Ter)
NM_033409.4(SLC52A3):c.1381G>T (p.Asp461Tyr) rs140360713
NM_033409.4(SLC52A3):c.1403_1404insTGCCTTCTGCAATCTGCACTGTCC (p.Phe462_Ala469dup)
NM_033409.4(SLC52A3):c.140T>C (p.Val47Ala) rs1555784013
NM_033409.4(SLC52A3):c.194G>A (p.Arg65Gln) rs144337813
NM_033409.4(SLC52A3):c.203G>C (p.Cys68Ser) rs149622425
NM_033409.4(SLC52A3):c.250G>A (p.Val84Ile)
NM_033409.4(SLC52A3):c.250G>C (p.Val84Leu) rs142064992
NM_033409.4(SLC52A3):c.272T>G (p.Phe91Cys) rs1481097414
NM_033409.4(SLC52A3):c.319G>A (p.Ala107Thr) rs370718326
NM_033409.4(SLC52A3):c.31G>A (p.Val11Ile) rs746808726
NM_033409.4(SLC52A3):c.327G>T (p.Leu109Phe)
NM_033409.4(SLC52A3):c.394C>T (p.Arg132Trp) rs267606684
NM_033409.4(SLC52A3):c.395G>A (p.Arg132Gln) rs142157418
NM_033409.4(SLC52A3):c.403A>G (p.Thr135Ala) rs527853872
NM_033409.4(SLC52A3):c.499G>A (p.Val167Ile)
NM_033409.4(SLC52A3):c.515T>C (p.Ile172Thr)
NM_033409.4(SLC52A3):c.517T>C (p.Ser173Pro)
NM_033409.4(SLC52A3):c.525C>G (p.Ser175Arg) rs143641819
NM_033409.4(SLC52A3):c.5C>T (p.Ala2Val) rs1472734097
NM_033409.4(SLC52A3):c.601G>A (p.Gly201Arg)
NM_033409.4(SLC52A3):c.628G>A (p.Glu210Lys) rs747663714
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390
NM_033409.4(SLC52A3):c.646G>A (p.Ala216Thr)
NM_033409.4(SLC52A3):c.706G>A (p.Val236Met)
NM_033409.4(SLC52A3):c.728G>A (p.Arg243His)
NM_033409.4(SLC52A3):c.754G>A (p.Val252Met)
NM_033409.4(SLC52A3):c.787C>T (p.His263Tyr)
NM_033409.4(SLC52A3):c.796C>T (p.Arg266Trp) rs370499474
NM_033409.4(SLC52A3):c.803G>A (p.Arg268Gln)
NM_033409.4(SLC52A3):c.890C>T (p.Pro297Leu)
NM_033409.4(SLC52A3):c.893C>T (p.Ala298Val) rs543436922
NM_033409.4(SLC52A3):c.914C>A (p.Thr305Asn)
NM_033409.4(SLC52A3):c.935C>T (p.Ala312Val) rs752218005
NM_033409.4(SLC52A3):c.950T>C (p.Met317Thr) rs1251411780
NM_033409.4(SLC52A3):c.994G>A (p.Val332Ile) rs890765839

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