ClinVar Miner

List of variants in gene POMT1 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 282
Download table as spreadsheet
HGVS dbSNP
NC_000009.11:g.(?_134379574)_(134398503_?)dup
NM_001077365.2(POMT1):c.*105G>A rs886063539
NM_001077365.2(POMT1):c.*182T>C rs535816758
NM_001077365.2(POMT1):c.*25C>T rs115818625
NM_001077365.2(POMT1):c.*274T>A rs886063540
NM_001077365.2(POMT1):c.*330G>A
NM_001077365.2(POMT1):c.*338T>G rs193003183
NM_001077365.2(POMT1):c.*370C>G
NM_001077365.2(POMT1):c.*37G>A
NM_001077365.2(POMT1):c.*381G>A
NM_001077365.2(POMT1):c.*448C>T
NM_001077365.2(POMT1):c.*591C>T
NM_001077365.2(POMT1):c.*613C>T
NM_001077365.2(POMT1):c.*614G>A rs373680261
NM_001077365.2(POMT1):c.*635T>G rs112845474
NM_001077365.2(POMT1):c.*64T>A
NM_001077365.2(POMT1):c.*68C>T rs773474667
NM_001077365.2(POMT1):c.*693C>T rs886063541
NM_001077365.2(POMT1):c.-168G>C rs556267289
NM_001077365.2(POMT1):c.-22C>T rs748211086
NM_001077365.2(POMT1):c.-30G>A rs780382988
NM_001077365.2(POMT1):c.-83C>T
NM_001077365.2(POMT1):c.1014C>T (p.His338=) rs886043203
NM_001077365.2(POMT1):c.1036C>T (p.Pro346Ser)
NM_001077365.2(POMT1):c.1052A>G (p.Asn351Ser)
NM_001077365.2(POMT1):c.1062G>T (p.Trp354Cys) rs1564354702
NM_001077365.2(POMT1):c.1064T>C (p.Ile355Thr) rs1334264954
NM_001077365.2(POMT1):c.1083-7C>G
NM_001077365.2(POMT1):c.1083-9_1083-8del rs781619064
NM_001077365.2(POMT1):c.1084C>A (p.His362Asn) rs141229412
NM_001077365.2(POMT1):c.1094T>C (p.Val365Ala) rs1251343700
NM_001077365.2(POMT1):c.1101C>T (p.Ser367=) rs771523115
NM_001077365.2(POMT1):c.1109C>T (p.Pro370Leu)
NM_001077365.2(POMT1):c.1110G>T (p.Pro370=)
NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu) rs200508760
NM_001077365.2(POMT1):c.1125C>G (p.His375Gln)
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg) rs146869947
NM_001077365.2(POMT1):c.1127G>A (p.Gly376Glu)
NM_001077365.2(POMT1):c.1129G>A (p.Asp377Asn) rs886044066
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299
NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser) rs146234177
NM_001077365.2(POMT1):c.1162C>T (p.Arg388Cys) rs748087053
NM_001077365.2(POMT1):c.1163G>A (p.Arg388His) rs138640226
NM_001077365.2(POMT1):c.1175+4_1175+7del rs1588409344
NM_001077365.2(POMT1):c.1176G>C (p.Thr392=)
NM_001077365.2(POMT1):c.1190C>A (p.Ala397Asp) rs1564364465
NM_001077365.2(POMT1):c.1193C>T (p.Pro398Leu) rs776388419
NM_001077365.2(POMT1):c.1194C>A (p.Pro398=) rs371653610
NM_001077365.2(POMT1):c.1194C>G (p.Pro398=) rs371653610
NM_001077365.2(POMT1):c.1199G>C (p.Ser400Thr) rs149575164
NM_001077365.2(POMT1):c.1200C>T (p.Ser400=) rs886043851
NM_001077365.2(POMT1):c.122+5G>A rs376753193
NM_001077365.2(POMT1):c.1226A>G (p.Tyr409Cys)
NM_001077365.2(POMT1):c.1229T>C (p.Ile410Thr) rs1554778053
NM_001077365.2(POMT1):c.123-6T>C rs201486083
NM_001077365.2(POMT1):c.1249C>T (p.Pro417Ser)
NM_001077365.2(POMT1):c.1251C>A (p.Pro417=)
NM_001077365.2(POMT1):c.1252G>A (p.Ala418Thr) rs142057517
NM_001077365.2(POMT1):c.1253C>T (p.Ala418Val) rs369651101
NM_001077365.2(POMT1):c.1256_1257insACA (p.Gln419dup) rs773942978
NM_001077365.2(POMT1):c.129C>T (p.Asp43=) rs200465419
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile) rs377304621
NM_001077365.2(POMT1):c.1311G>A (p.Lys437=)
NM_001077365.2(POMT1):c.1323A>C (p.Ser441=) rs753403833
NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys) rs752384050
NM_001077365.2(POMT1):c.1331G>A (p.Arg444His) rs758736387
NM_001077365.2(POMT1):c.1349C>A (p.Thr450Asn) rs757785909
NM_001077365.2(POMT1):c.1352C>T (p.Ser451Phe) rs890463115
NM_001077365.2(POMT1):c.1353C>A (p.Ser451=)
NM_001077365.2(POMT1):c.1354G>A (p.Ala452Thr) rs150702948
NM_001077365.2(POMT1):c.1357G>A (p.Val453Ile)
NM_001077365.2(POMT1):c.1365+15C>T rs58896330
NM_001077365.2(POMT1):c.1381C>T (p.Leu461Phe) rs749458250
NM_001077365.2(POMT1):c.1384C>T (p.Pro462Ser)
NM_001077365.2(POMT1):c.1390T>G (p.Trp464Gly)
NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser) rs746849558
NM_001077365.2(POMT1):c.1399C>T (p.Arg467Trp)
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326
NM_001077365.2(POMT1):c.1417G>A (p.Gly473Arg)
NM_001077365.2(POMT1):c.141T>C (p.Tyr47=) rs752941420
NM_001077365.2(POMT1):c.1426C>G (p.Leu476Val)
NM_001077365.2(POMT1):c.1432C>T (p.Arg478Trp)
NM_001077365.2(POMT1):c.1433G>A (p.Arg478Gln)
NM_001077365.2(POMT1):c.1436G>C (p.Gly479Ala)
NM_001077365.2(POMT1):c.1439A>G (p.Tyr480Cys)
NM_001077365.2(POMT1):c.1443C>T (p.His481=) rs139415150
NM_001077365.2(POMT1):c.1444G>A (p.Gly482Arg)
NM_001077365.2(POMT1):c.1451C>T (p.Thr484Met) rs201220016
NM_001077365.2(POMT1):c.1461C>T (p.Asn487=) rs373482514
NM_001077365.2(POMT1):c.1462G>A (p.Val488Met) rs748365119
NM_001077365.2(POMT1):c.1465GAG[1] (p.Glu490del)
NM_001077365.2(POMT1):c.1480G>A (p.Gly494Ser) rs200204923
NM_001077365.2(POMT1):c.1483G>A (p.Ala495Thr) rs774039973
NM_001077365.2(POMT1):c.1484C>T (p.Ala495Val) rs761439623
NM_001077365.2(POMT1):c.1485G>A (p.Ala495=)
NM_001077365.2(POMT1):c.1486+10C>T rs373393733
NM_001077365.2(POMT1):c.1486+14G>A rs142995404
NM_001077365.2(POMT1):c.1486+9G>A rs547775333
NM_001077365.2(POMT1):c.1487-5G>T rs747783069
NM_001077365.2(POMT1):c.1488C>T (p.Ser496=) rs727503872
NM_001077365.2(POMT1):c.1490_1498del (p.Gln497_Gln499del)
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576
NM_001077365.2(POMT1):c.1503_1508dup (p.500_501RE[4]) rs727502853
NM_001077365.2(POMT1):c.1507G>A (p.Glu503Lys)
NM_001077365.2(POMT1):c.1511G>A (p.Arg504Gln) rs370705614
NM_001077365.2(POMT1):c.151A>T (p.Ile51Phe) rs886044651
NM_001077365.2(POMT1):c.1525C>G (p.Pro509Ala) rs140398617
NM_001077365.2(POMT1):c.1528G>A (p.Ala510Thr)
NM_001077365.2(POMT1):c.1529C>T (p.Ala510Val) rs752732512
NM_001077365.2(POMT1):c.1540G>A (p.Val514Ile) rs984288781
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385
NM_001077365.2(POMT1):c.1548G>C (p.Arg516Ser)
NM_001077365.2(POMT1):c.154T>C (p.Ser52Pro) rs1554771665
NM_001077365.2(POMT1):c.1555A>G (p.Ser519Gly) rs1564381465
NM_001077365.2(POMT1):c.1565C>T (p.Ala522Val)
NM_001077365.2(POMT1):c.1571T>G (p.Phe524Cys) rs138825095
NM_001077365.2(POMT1):c.1574C>T (p.Ser525Leu)
NM_001077365.2(POMT1):c.1576G>A (p.Glu526Lys)
NM_001077365.2(POMT1):c.1581G>A (p.Leu527=)
NM_001077365.2(POMT1):c.1585T>C (p.Trp529Arg)
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val) rs199682341
NM_001077365.2(POMT1):c.1601T>C (p.Leu534Pro) rs1489617043
NM_001077365.2(POMT1):c.1616C>T (p.Ser539Leu)
NM_001077365.2(POMT1):c.1627T>C (p.Tyr543His) rs1192384406
NM_001077365.2(POMT1):c.1637G>C (p.Ser546Thr)
NM_001077365.2(POMT1):c.1639C>T (p.Pro547Ser) rs1588482418
NM_001077365.2(POMT1):c.1647G>A (p.Glu549=) rs757830349
NM_001077365.2(POMT1):c.1658T>C (p.Leu553Pro) rs777490066
NM_001077365.2(POMT1):c.1671T>C (p.Ile557=) rs200969468
NM_001077365.2(POMT1):c.1698+10C>A rs184131819
NM_001077365.2(POMT1):c.1698+1G>A rs763586263
NM_001077365.2(POMT1):c.1698+3A>G rs794727191
NM_001077365.2(POMT1):c.1698+6C>T rs180847856
NM_001077365.2(POMT1):c.1699-7C>G rs764871902
NM_001077365.2(POMT1):c.1705A>C (p.Ile569Leu) rs1588493803
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) rs144338642
NM_001077365.2(POMT1):c.1729A>G (p.Ile577Val) rs749978093
NM_001077365.2(POMT1):c.1735G>C (p.Val579Leu) rs1588494128
NM_001077365.2(POMT1):c.1740G>A (p.Ser580=) rs148758906
NM_001077365.2(POMT1):c.1746C>T (p.Ser582=) rs376373313
NM_001077365.2(POMT1):c.1749C>G (p.Leu583=) rs755379319
NM_001077365.2(POMT1):c.1749C>T (p.Leu583=) rs755379319
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del) rs750195040
NM_001077365.2(POMT1):c.1763A>G (p.Tyr588Cys) rs772131719
NM_001077365.2(POMT1):c.1765G>A (p.Ala589Thr) rs747138675
NM_001077365.2(POMT1):c.178T>C (p.Phe60Leu) rs1564332130
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) rs202140413
NM_001077365.2(POMT1):c.1795C>T (p.Arg599Trp) rs150899645
NM_001077365.2(POMT1):c.1796G>A (p.Arg599Gln) rs367709136
NM_001077365.2(POMT1):c.1799G>T (p.Arg600Leu) rs753485021
NM_001077365.2(POMT1):c.181T>A (p.Leu61Met) rs886042868
NM_001077365.2(POMT1):c.1823A>G (p.Gln608Arg) rs145021255
NM_001077365.2(POMT1):c.1828G>A (p.Ala610Thr) rs773190071
NM_001077365.2(POMT1):c.1837C>T (p.Arg613Cys) rs759135168
NM_001077365.2(POMT1):c.1838G>A (p.Arg613His) rs147601415
NM_001077365.2(POMT1):c.183G>A (p.Leu61=)
NM_001077365.2(POMT1):c.1867G>A (p.Gly623Ser) rs756303645
NM_001077365.2(POMT1):c.1907A>G (p.Glu636Gly)
NM_001077365.2(POMT1):c.1933C>T (p.Leu645=) rs750972624
NM_001077365.2(POMT1):c.197C>G (p.Pro66Arg) rs757903559
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu) rs757903559
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) rs140553130
NM_001077365.2(POMT1):c.2002A>C (p.Arg668=)
NM_001077365.2(POMT1):c.2003+4C>T rs766635497
NM_001077365.2(POMT1):c.2003+9G>A rs368975092
NM_001077365.2(POMT1):c.2004-5T>C rs886044271
NM_001077365.2(POMT1):c.2004-9C>T rs886063538
NM_001077365.2(POMT1):c.2027T>C (p.Phe676Ser) rs1201402718
NM_001077365.2(POMT1):c.202T>C (p.Phe68Leu) rs138433752
NM_001077365.2(POMT1):c.2031C>T (p.Ser677=) rs778418119
NM_001077365.2(POMT1):c.2050T>C (p.Tyr684His)
NM_001077365.2(POMT1):c.2058C>T (p.Ser686=) rs886043948
NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr) rs535544133
NM_001077365.2(POMT1):c.205G>A (p.Gly69Ser)
NM_001077365.2(POMT1):c.2061G>A (p.Ala687=) rs200916353
NM_001077365.2(POMT1):c.2067C>A (p.His689Gln) rs141895982
NM_001077365.2(POMT1):c.2067C>T (p.His689=) rs141895982
NM_001077365.2(POMT1):c.2068G>A (p.Val690Met) rs150209587
NM_001077365.2(POMT1):c.2078C>T (p.Thr693Met)
NM_001077365.2(POMT1):c.2083C>T (p.Arg695Cys) rs200179598
NM_001077365.2(POMT1):c.2084G>A (p.Arg695His) rs373402995
NM_001077365.2(POMT1):c.2087C>G (p.Pro696Arg) rs886044354
NM_001077365.2(POMT1):c.208C>A (p.His70Asn) rs886043485
NM_001077365.2(POMT1):c.2090T>A (p.Leu697His) rs753872714
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) rs138902646
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=) rs138902646
NM_001077365.2(POMT1):c.2098G>T (p.Gly700Trp)
NM_001077365.2(POMT1):c.2101G>T (p.Asp701Tyr) rs771877812
NM_001077365.2(POMT1):c.2114C>T (p.Ser705Leu)
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524
NM_001077365.2(POMT1):c.2123A>T (p.Glu708Val) rs975505270
NM_001077365.2(POMT1):c.2132C>T (p.Ala711Val) rs769694503
NM_001077365.2(POMT1):c.2138G>A (p.Arg713His) rs938573554
NM_001077365.2(POMT1):c.2143A>C (p.Lys715Gln) rs886044082
NM_001077365.2(POMT1):c.214G>T (p.Val72Leu) rs780353966
NM_001077365.2(POMT1):c.2167C>T (p.Arg723Ter) rs202202445
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094
NM_001077365.2(POMT1):c.2178G>C (p.Ter726Tyr)
NM_001077365.2(POMT1):c.246C>T (p.Phe82=) rs148887050
NM_001077365.2(POMT1):c.247G>A (p.Asp83Asn) rs530211718
NM_001077365.2(POMT1):c.26T>C (p.Val9Ala)
NM_001077365.2(POMT1):c.280+7_280+8del rs561658895
NM_001077365.2(POMT1):c.30G>A (p.Val10=) rs201533471
NM_001077365.2(POMT1):c.310C>T (p.Leu104=) rs146982282
NM_001077365.2(POMT1):c.328C>T (p.Leu110Phe) rs1338443127
NM_001077365.2(POMT1):c.330C>G (p.Leu110=) rs138064523
NM_001077365.2(POMT1):c.332C>T (p.Ala111Val) rs371531181
NM_001077365.2(POMT1):c.345G>A (p.Ser115=) rs147212285
NM_001077365.2(POMT1):c.367G>T (p.Val123Leu) rs1424629668
NM_001077365.2(POMT1):c.36G>A (p.Thr12=) rs201262353
NM_001077365.2(POMT1):c.389A>C (p.His130Pro) rs752880907
NM_001077365.2(POMT1):c.401T>C (p.Met134Thr) rs780170650
NM_001077365.2(POMT1):c.424A>T (p.Ile142Phe) rs141833028
NM_001077365.2(POMT1):c.425T>C (p.Ile142Thr) rs746950128
NM_001077365.2(POMT1):c.426C>T (p.Ile142=) rs771390000
NM_001077365.2(POMT1):c.427+8C>T rs201727519
NM_001077365.2(POMT1):c.42C>T (p.Asp14=) rs150937126
NM_001077365.2(POMT1):c.452G>C (p.Arg151Thr) rs398124246
NM_001077365.2(POMT1):c.459G>A (p.Met153Ile)
NM_001077365.2(POMT1):c.488A>G (p.Asn163Ser) rs182295674
NM_001077365.2(POMT1):c.516G>T (p.Lys172Asn)
NM_001077365.2(POMT1):c.538A>C (p.Ser180Arg)
NM_001077365.2(POMT1):c.539+3A>C rs780457748
NM_001077365.2(POMT1):c.539+3A>G rs780457748
NM_001077365.2(POMT1):c.545T>G (p.Phe182Cys)
NM_001077365.2(POMT1):c.568C>T (p.Leu190=) rs752931210
NM_001077365.2(POMT1):c.57T>C (p.Leu19=) rs886043325
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr) rs199498900
NM_001077365.2(POMT1):c.592T>A (p.Ser198Thr) rs767056835
NM_001077365.2(POMT1):c.599C>G (p.Ala200Gly) rs886043111
NM_001077365.2(POMT1):c.606-15G>C
NM_001077365.2(POMT1):c.619G>T (p.Gly207Cys) rs1554774121
NM_001077365.2(POMT1):c.620G>A (p.Gly207Asp) rs765733801
NM_001077365.2(POMT1):c.629C>T (p.Thr210Met) rs377037072
NM_001077365.2(POMT1):c.634G>A (p.Val212Met) rs746119386
NM_001077365.2(POMT1):c.640G>A (p.Val214Met)
NM_001077365.2(POMT1):c.641T>C (p.Val214Ala) rs919829316
NM_001077365.2(POMT1):c.663T>C (p.His221=) rs886043159
NM_001077365.2(POMT1):c.672C>A (p.His224Gln) rs1315200279
NM_001077365.2(POMT1):c.677T>C (p.Leu226Pro) rs1554774207
NM_001077365.2(POMT1):c.687G>C (p.Gln229His)
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400
NM_001077365.2(POMT1):c.698A>G (p.Asn233Ser) rs139774354
NM_001077365.2(POMT1):c.699+14T>A rs370038491
NM_001077365.2(POMT1):c.699+18G>C rs886063537
NM_001077365.2(POMT1):c.699+19T>C rs763483567
NM_001077365.2(POMT1):c.699+1G>A rs1275810616
NM_001077365.2(POMT1):c.699+27G>A
NM_001077365.2(POMT1):c.699+32C>T
NM_001077365.2(POMT1):c.699+64G>C
NM_001077365.2(POMT1):c.700-17C>T
NM_001077365.2(POMT1):c.700G>A (p.Val234Ile)
NM_001077365.2(POMT1):c.721C>G (p.Leu241Val)
NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr) rs779771679
NM_001077365.2(POMT1):c.725C>T (p.Ala242Val) rs1554774466
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) rs139660235
NM_001077365.2(POMT1):c.757G>A (p.Val253Ile) rs772590277
NM_001077365.2(POMT1):c.781G>A (p.Val261Ile) rs759734493
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe) rs201073763
NM_001077365.2(POMT1):c.803G>A (p.Arg268His) rs369644530
NM_001077365.2(POMT1):c.817G>A (p.Asp273Asn)
NM_001077365.2(POMT1):c.846C>T (p.Ala282=) rs886043307
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) rs747506380
NM_001077365.2(POMT1):c.855+6T>C rs200692465
NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp) rs886042627
NM_001077365.2(POMT1):c.875C>G (p.Thr292Ser) rs376471064
NM_001077365.2(POMT1):c.879G>T (p.Gln293His)
NM_001077365.2(POMT1):c.880G>T (p.Gly294Cys) rs145395372
NM_001077365.2(POMT1):c.921G>T (p.Leu307=) rs371243573
NM_001077365.2(POMT1):c.927C>T (p.Asn309=) rs753694905
NM_001077365.2(POMT1):c.928G>A (p.Val310Ile) rs190112934
NM_001077365.2(POMT1):c.934G>A (p.Gly312Arg)
NM_001077365.2(POMT1):c.936G>T (p.Gly312=) rs797045897
NM_001077365.2(POMT1):c.937A>G (p.Lys313Glu) rs886042835
NM_001077365.2(POMT1):c.962_982del (p.Ser321_Met328delinsLeu)
NM_001077365.2(POMT1):c.970G>A (p.Asp324Asn) rs886042459
NM_001077365.2(POMT1):c.977A>G (p.Tyr326Cys) rs377372480
NM_001077365.2(POMT1):c.986+5G>A rs370096853
NM_001077365.2(POMT1):c.986+9A>G rs202095070
NM_001135954.2(UCK1):c.*1373C>T
NM_007171.3(POMT1):c.-195C>T rs886063536
NM_007171.3(POMT1):c.-196G>T rs886063535

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.