ClinVar Miner

List of variants in gene TWNK reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 290
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HGVS dbSNP gnomAD frequency
NM_021830.5(TWNK):c.384C>T (p.Ser128=) rs148234280 0.00045
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) rs577209883 0.00041
NM_021830.5(TWNK):c.241C>G (p.Leu81Val) rs145068570 0.00033
NM_021830.5(TWNK):c.689G>T (p.Gly230Val) rs142978552 0.00026
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) rs62626271 0.00021
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His) rs144001072 0.00021
NM_021830.5(TWNK):c.434C>T (p.Ala145Val) rs143938897 0.00013
NM_021830.5(TWNK):c.169G>A (p.Ala57Thr) rs373068264 0.00011
NM_021830.5(TWNK):c.2015C>G (p.Pro672Arg) rs199583659 0.00010
NM_021830.5(TWNK):c.1052A>G (p.Asn351Ser) rs370231886 0.00009
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) rs369223258 0.00009
NM_021830.5(TWNK):c.1190A>G (p.Asp397Gly) rs751144474 0.00008
NM_021830.5(TWNK):c.1485G>A (p.Arg495=) rs202197777 0.00008
NM_021830.5(TWNK):c.238G>A (p.Ala80Thr) rs201523414 0.00007
NM_021830.5(TWNK):c.1112G>A (p.Arg371Gln) rs143309797 0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108 0.00006
NM_021830.5(TWNK):c.1999T>G (p.Cys667Gly) rs1013913162 0.00006
NM_021830.5(TWNK):c.548C>G (p.Thr183Ser) rs755275071 0.00006
NM_021830.5(TWNK):c.1070G>A (p.Arg357His) rs758026634 0.00004
NM_021830.5(TWNK):c.115C>T (p.Arg39Cys) rs145595491 0.00004
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) rs139124415 0.00004
NM_021830.5(TWNK):c.1827C>A (p.Arg609=) rs146601680 0.00004
NM_021830.5(TWNK):c.1958C>T (p.Ser653Phe) rs775046032 0.00004
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu) rs767175342 0.00004
NM_021830.5(TWNK):c.602C>T (p.Ala201Val) rs774181599 0.00004
NM_021830.5(TWNK):c.1802G>A (p.Arg601Gln) rs141315771 0.00003
NM_021830.5(TWNK):c.1925A>G (p.Lys642Arg) rs748463127 0.00003
NM_021830.5(TWNK):c.290C>G (p.Thr97Ser) rs772751928 0.00003
NM_021830.5(TWNK):c.712A>G (p.Ile238Val) rs774241806 0.00003
NM_021830.5(TWNK):c.1021C>T (p.Arg341Cys) rs566579080 0.00002
NM_021830.5(TWNK):c.1357C>T (p.Arg453Trp) rs572114433 0.00002
NM_021830.5(TWNK):c.1909C>T (p.Arg637Trp) rs755985090 0.00002
NM_021830.5(TWNK):c.566C>T (p.Thr189Ile) rs367943955 0.00002
NM_021830.5(TWNK):c.860C>T (p.Thr287Met) rs777472403 0.00002
NM_021830.5(TWNK):c.1022G>A (p.Arg341His) rs764350676 0.00001
NM_021830.5(TWNK):c.107C>T (p.Pro36Leu) rs954019330 0.00001
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621 0.00001
NM_021830.5(TWNK):c.1181G>A (p.Arg394His) rs752211501 0.00001
NM_021830.5(TWNK):c.1224C>T (p.Gly408=) rs923943932 0.00001
NM_021830.5(TWNK):c.1270T>C (p.Phe424Leu) rs1356896874 0.00001
NM_021830.5(TWNK):c.1381G>A (p.Glu461Lys) rs776518524 0.00001
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp) rs386834146 0.00001
NM_021830.5(TWNK):c.1429C>T (p.Arg477Cys) rs760427334 0.00001
NM_021830.5(TWNK):c.1430G>A (p.Arg477His) rs1364676852 0.00001
NM_021830.5(TWNK):c.1466A>G (p.His489Arg) rs765275995 0.00001
NM_021830.5(TWNK):c.1510G>A (p.Ala504Thr) rs863223923 0.00001
NM_021830.5(TWNK):c.1519G>A (p.Val507Ile) rs369588002 0.00001
NM_021830.5(TWNK):c.1592+5C>T rs1011909627 0.00001
NM_021830.5(TWNK):c.1618G>A (p.Gly540Arg) rs568256888 0.00001
NM_021830.5(TWNK):c.1627C>T (p.Arg543Trp) rs779788390 0.00001
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) rs886046632 0.00001
NM_021830.5(TWNK):c.1910G>A (p.Arg637Gln) rs575489870 0.00001
NM_021830.5(TWNK):c.193C>T (p.Arg65Trp) rs753640924 0.00001
NM_021830.5(TWNK):c.1948A>C (p.Lys650Gln) rs747597649 0.00001
NM_021830.5(TWNK):c.2000G>A (p.Cys667Tyr) rs374146818 0.00001
NM_021830.5(TWNK):c.284G>C (p.Gly95Ala) rs370982227 0.00001
NM_021830.5(TWNK):c.338G>C (p.Cys113Ser) rs863223917 0.00001
NM_021830.5(TWNK):c.341T>G (p.Met114Arg) rs765038479 0.00001
NM_021830.5(TWNK):c.385G>A (p.Val129Met) rs757306944 0.00001
NM_021830.5(TWNK):c.404G>A (p.Gly135Glu) rs375005531 0.00001
NM_021830.5(TWNK):c.551A>G (p.Lys184Arg) rs748648084 0.00001
NM_021830.5(TWNK):c.638G>T (p.Gly213Val) rs1057524510 0.00001
NM_021830.5(TWNK):c.727G>A (p.Ala243Thr) rs1400893442 0.00001
NM_021830.5(TWNK):c.737A>G (p.Asn246Ser) rs754081544 0.00001
NM_021830.5(TWNK):c.799C>G (p.Leu267Val) rs139419993 0.00001
NM_021830.5(TWNK):c.861G>A (p.Thr287=) rs886043754 0.00001
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) rs374997012 0.00001
NM_021830.5(TWNK):c.908G>A (p.Arg303Gln) rs137852956 0.00001
NM_021830.5(TWNK):c.913G>A (p.Val305Ile) rs753457416 0.00001
NM_021830.5(TWNK):c.1003C>A (p.Pro335Thr) rs1554887028
NM_021830.5(TWNK):c.1006G>A (p.Gly336Arg)
NM_021830.5(TWNK):c.1012C>G (p.Gln338Glu)
NM_021830.5(TWNK):c.1014G>C (p.Gln338His) rs1183712053
NM_021830.5(TWNK):c.1034C>T (p.Ala345Val)
NM_021830.5(TWNK):c.104C>T (p.Pro35Leu)
NM_021830.5(TWNK):c.1057T>C (p.Ser353Pro)
NM_021830.5(TWNK):c.1061G>A (p.Arg354His) rs111033576
NM_021830.5(TWNK):c.1061G>T (p.Arg354Leu)
NM_021830.5(TWNK):c.1074C>A (p.Thr358=)
NM_021830.5(TWNK):c.1087T>C (p.Trp363Arg) rs2133938246
NM_021830.5(TWNK):c.1092C>G (p.His364Gln) rs2133938256
NM_021830.5(TWNK):c.1099A>G (p.Ile367Val)
NM_021830.5(TWNK):c.1101C>G (p.Ile367Met)
NM_021830.5(TWNK):c.1111C>T (p.Arg371Trp)
NM_021830.5(TWNK):c.1115A>C (p.Gln372Pro) rs984995611
NM_021830.5(TWNK):c.1115A>G (p.Gln372Arg)
NM_021830.5(TWNK):c.1115A>T (p.Gln372Leu)
NM_021830.5(TWNK):c.1120C>G (p.Arg374Gly)
NM_021830.5(TWNK):c.1147A>G (p.Asn383Asp) rs1085307565
NM_021830.5(TWNK):c.1159G>A (p.Ala387Thr)
NM_021830.5(TWNK):c.1166G>T (p.Gly389Val)
NM_021830.5(TWNK):c.116G>A (p.Arg39His) rs1057523065
NM_021830.5(TWNK):c.1180C>T (p.Arg394Cys)
NM_021830.5(TWNK):c.1183T>C (p.Phe395Leu) rs1440229445
NM_021830.5(TWNK):c.1192C>T (p.Leu398Phe) rs2133938637
NM_021830.5(TWNK):c.1199G>A (p.Arg400His)
NM_021830.5(TWNK):c.1201A>C (p.Ile401Leu)
NM_021830.5(TWNK):c.1210G>A (p.Gly404Arg)
NM_021830.5(TWNK):c.1214A>G (p.His405Arg)
NM_021830.5(TWNK):c.122G>A (p.Arg41Lys)
NM_021830.5(TWNK):c.122G>C (p.Arg41Thr)
NM_021830.5(TWNK):c.1243+6C>G
NM_021830.5(TWNK):c.1244-5T>G
NM_021830.5(TWNK):c.1255A>G (p.Ser419Gly)
NM_021830.5(TWNK):c.1272C>G (p.Phe424Leu) rs773918715
NM_021830.5(TWNK):c.1280A>G (p.Glu427Gly)
NM_021830.5(TWNK):c.1285G>T (p.Ala429Ser)
NM_021830.5(TWNK):c.1289T>A (p.Leu430Gln) rs1564809091
NM_021830.5(TWNK):c.1301C>A (p.Ser434Tyr)
NM_021830.5(TWNK):c.1306G>A (p.Gly436Arg) rs863223922
NM_021830.5(TWNK):c.1306G>C (p.Gly436Arg)
NM_021830.5(TWNK):c.1324G>A (p.Gly442Ser) rs955238004
NM_021830.5(TWNK):c.1338C>G (p.Ile446Met) rs766151894
NM_021830.5(TWNK):c.1349G>A (p.Arg450Lys)
NM_021830.5(TWNK):c.1359G>T (p.Arg453=)
NM_021830.5(TWNK):c.1366C>G (p.Leu456Val) rs386834145
NM_021830.5(TWNK):c.1376T>G (p.Phe459Cys)
NM_021830.5(TWNK):c.1387C>G (p.Arg463Gly)
NM_021830.5(TWNK):c.139G>A (p.Ala47Thr)
NM_021830.5(TWNK):c.1409A>C (p.Lys470Thr)
NM_021830.5(TWNK):c.1414G>A (p.Asp472Asn) rs1057523561
NM_021830.5(TWNK):c.1427A>T (p.Asp476Val)
NM_021830.5(TWNK):c.1430G>C (p.Arg477Pro)
NM_021830.5(TWNK):c.1440C>T (p.Asp480=) rs1564809336
NM_021830.5(TWNK):c.1448T>A (p.Leu483His)
NM_021830.5(TWNK):c.1453T>A (p.Phe485Ile)
NM_021830.5(TWNK):c.1456A>G (p.Met486Val)
NM_021830.5(TWNK):c.1463T>C (p.Phe488Ser)
NM_021830.5(TWNK):c.1465C>T (p.His489Tyr)
NM_021830.5(TWNK):c.146A>T (p.Asp49Val)
NM_021830.5(TWNK):c.1486A>G (p.Thr496Ala)
NM_021830.5(TWNK):c.1495G>C (p.Asp499His)
NM_021830.5(TWNK):c.1495G>T (p.Asp499Tyr)
NM_021830.5(TWNK):c.1511C>T (p.Ala504Val)
NM_021830.5(TWNK):c.1535A>C (p.His512Pro) rs1564809766
NM_021830.5(TWNK):c.1537G>C (p.Val513Leu) rs863223924
NM_021830.5(TWNK):c.1566G>A (p.Met522Ile) rs1219162535
NM_021830.5(TWNK):c.1590C>T (p.Asp530=) rs2133941470
NM_021830.5(TWNK):c.1592+6G>A
NM_021830.5(TWNK):c.1593-17T>G
NM_021830.5(TWNK):c.1598C>T (p.Ala533Val)
NM_021830.5(TWNK):c.1615A>C (p.Ile539Leu)
NM_021830.5(TWNK):c.1628G>A (p.Arg543Gln) rs753386843
NM_021830.5(TWNK):c.1635T>G (p.Phe545Leu)
NM_021830.5(TWNK):c.1639A>G (p.Thr547Ala)
NM_021830.5(TWNK):c.1646A>G (p.Asn549Ser)
NM_021830.5(TWNK):c.1669A>G (p.Ile557Val)
NM_021830.5(TWNK):c.1687G>A (p.Asp563Asn)
NM_021830.5(TWNK):c.1707G>T (p.Gln569His) rs2133942458
NM_021830.5(TWNK):c.1712C>T (p.Ala571Val) rs770025210
NM_021830.5(TWNK):c.1734+15_1734+16delinsTA
NM_021830.5(TWNK):c.1734+3G>A
NM_021830.5(TWNK):c.1734A>G (p.Lys578=)
NM_021830.5(TWNK):c.1736C>T (p.Ala579Val)
NM_021830.5(TWNK):c.1756G>A (p.Val586Ile)
NM_021830.5(TWNK):c.1759C>A (p.Leu587Met)
NM_021830.5(TWNK):c.1778A>G (p.Lys593Arg)
NM_021830.5(TWNK):c.1789G>A (p.Gly597Arg)
NM_021830.5(TWNK):c.1793C>T (p.Pro598Leu)
NM_021830.5(TWNK):c.1813G>A (p.Val605Met)
NM_021830.5(TWNK):c.1817C>G (p.Ser606Cys)
NM_021830.5(TWNK):c.181C>T (p.Arg61Cys)
NM_021830.5(TWNK):c.1825C>T (p.Arg609Cys)
NM_021830.5(TWNK):c.1826G>A (p.Arg609His)
NM_021830.5(TWNK):c.1837G>C (p.Asp613His)
NM_021830.5(TWNK):c.1846G>A (p.Val616Ile)
NM_021830.5(TWNK):c.1855C>T (p.Leu619Phe)
NM_021830.5(TWNK):c.1860del (p.Glu620fs)
NM_021830.5(TWNK):c.1862T>A (p.Phe621Tyr)
NM_021830.5(TWNK):c.1863C>G (p.Phe621Leu)
NM_021830.5(TWNK):c.1864A>C (p.Asn622His)
NM_021830.5(TWNK):c.1868A>G (p.Lys623Arg)
NM_021830.5(TWNK):c.1891C>G (p.Pro631Ala)
NM_021830.5(TWNK):c.1902C>A (p.Asn634Lys)
NM_021830.5(TWNK):c.1902C>G (p.Asn634Lys)
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr) rs1426435572
NM_021830.5(TWNK):c.1916AGA[1] (p.Lys640del)
NM_021830.5(TWNK):c.1926G>C (p.Lys642Asn)
NM_021830.5(TWNK):c.1942G>C (p.Val648Leu)
NM_021830.5(TWNK):c.1954C>A (p.Pro652Thr) rs267602340
NM_021830.5(TWNK):c.1954C>T (p.Pro652Ser) rs267602340
NM_021830.5(TWNK):c.1958C>G (p.Ser653Cys)
NM_021830.5(TWNK):c.196G>A (p.Gly66Arg)
NM_021830.5(TWNK):c.1972G>A (p.Gly658Arg) rs868535097
NM_021830.5(TWNK):c.1979C>T (p.Thr660Met)
NM_021830.5(TWNK):c.1986G>C (p.Gln662His)
NM_021830.5(TWNK):c.19A>G (p.Ser7Gly)
NM_021830.5(TWNK):c.2002T>C (p.Ser668Pro)
NM_021830.5(TWNK):c.2005G>A (p.Gly669Ser) rs1851842282
NM_021830.5(TWNK):c.2012C>A (p.Ala671Asp)
NM_021830.5(TWNK):c.2012C>G (p.Ala671Gly) rs747328996
NM_021830.5(TWNK):c.2017A>G (p.Thr673Ala)
NM_021830.5(TWNK):c.2023G>A (p.Asp675Asn)
NM_021830.5(TWNK):c.2023G>T (p.Asp675Tyr)
NM_021830.5(TWNK):c.2026C>G (p.Gln676Glu)
NM_021830.5(TWNK):c.2032G>A (p.Asp678Asn)
NM_021830.5(TWNK):c.203G>C (p.Gly68Ala)
NM_021830.5(TWNK):c.2042A>G (p.Lys681Arg)
NM_021830.5(TWNK):c.2051A>C (p.Lys684Thr)
NM_021830.5(TWNK):c.208C>T (p.Pro70Ser)
NM_021830.5(TWNK):c.209C>T (p.Pro70Leu)
NM_021830.5(TWNK):c.20G>T (p.Ser7Ile)
NM_021830.5(TWNK):c.223C>T (p.His75Tyr) rs1590017444
NM_021830.5(TWNK):c.247C>T (p.Pro83Ser) rs386834147
NM_021830.5(TWNK):c.248C>T (p.Pro83Leu) rs1446248692
NM_021830.5(TWNK):c.267G>T (p.Gln89His) rs2133935074
NM_021830.5(TWNK):c.29C>A (p.Pro10His)
NM_021830.5(TWNK):c.340A>T (p.Met114Leu) rs863223916
NM_021830.5(TWNK):c.352G>A (p.Ala118Thr) rs1408541671
NM_021830.5(TWNK):c.362G>A (p.Ser121Asn)
NM_021830.5(TWNK):c.375C>A (p.Phe125Leu)
NM_021830.5(TWNK):c.388G>C (p.Glu130Gln) rs1285025956
NM_021830.5(TWNK):c.392G>A (p.Gly131Glu)
NM_021830.5(TWNK):c.395G>A (p.Arg132Gln)
NM_021830.5(TWNK):c.413A>C (p.Glu138Ala)
NM_021830.5(TWNK):c.416G>T (p.Gly139Val)
NM_021830.5(TWNK):c.428G>A (p.Ser143Asn)
NM_021830.5(TWNK):c.437dup (p.Glu147fs)
NM_021830.5(TWNK):c.441A>C (p.Glu147Asp)
NM_021830.5(TWNK):c.454G>C (p.Glu152Gln)
NM_021830.5(TWNK):c.463C>T (p.Arg155Trp)
NM_021830.5(TWNK):c.464G>A (p.Arg155Gln)
NM_021830.5(TWNK):c.469A>T (p.Ile157Phe) rs2133935820
NM_021830.5(TWNK):c.479G>A (p.Arg160Gln)
NM_021830.5(TWNK):c.47C>T (p.Pro16Leu)
NM_021830.5(TWNK):c.487C>T (p.Pro163Ser)
NM_021830.5(TWNK):c.499C>G (p.Leu167Val)
NM_021830.5(TWNK):c.503C>G (p.Pro168Arg)
NM_021830.5(TWNK):c.508C>G (p.Gln170Glu)
NM_021830.5(TWNK):c.50T>A (p.Leu17Gln)
NM_021830.5(TWNK):c.515A>C (p.Glu172Ala)
NM_021830.5(TWNK):c.523C>G (p.Leu175Val)
NM_021830.5(TWNK):c.533C>T (p.Thr178Ile)
NM_021830.5(TWNK):c.53G>A (p.Arg18His)
NM_021830.5(TWNK):c.553G>A (p.Val185Ile)
NM_021830.5(TWNK):c.559G>T (p.Asp187Tyr)
NM_021830.5(TWNK):c.561_563dup (p.Asp188dup) rs2133936093
NM_021830.5(TWNK):c.562G>A (p.Asp188Asn)
NM_021830.5(TWNK):c.564C>A (p.Asp188Glu)
NM_021830.5(TWNK):c.568C>A (p.Leu190Ile)
NM_021830.5(TWNK):c.581G>A (p.Ser194Asn)
NM_021830.5(TWNK):c.592C>G (p.Leu198Val)
NM_021830.5(TWNK):c.596G>A (p.Arg199Gln) rs1564807938
NM_021830.5(TWNK):c.601G>C (p.Ala201Pro)
NM_021830.5(TWNK):c.604C>A (p.Arg202Ser)
NM_021830.5(TWNK):c.604C>T (p.Arg202Cys)
NM_021830.5(TWNK):c.607A>C (p.Ser203Arg)
NM_021830.5(TWNK):c.607A>G (p.Ser203Gly)
NM_021830.5(TWNK):c.611T>G (p.Leu204Arg) rs863223918
NM_021830.5(TWNK):c.625_626insCCTCCCCTGGGT (p.Trp208_Phe209insSerSerProGly)
NM_021830.5(TWNK):c.631C>T (p.Pro211Ser)
NM_021830.5(TWNK):c.632C>T (p.Pro211Leu)
NM_021830.5(TWNK):c.637G>C (p.Gly213Arg)
NM_021830.5(TWNK):c.670G>A (p.Ala224Thr) rs2133936641
NM_021830.5(TWNK):c.677G>T (p.Cys226Phe)
NM_021830.5(TWNK):c.67G>C (p.Gly23Arg)
NM_021830.5(TWNK):c.68G>C (p.Gly23Ala)
NM_021830.5(TWNK):c.691G>C (p.Val231Leu)
NM_021830.5(TWNK):c.694A>G (p.Ser232Gly)
NM_021830.5(TWNK):c.700G>A (p.Glu234Lys)
NM_021830.5(TWNK):c.712A>C (p.Ile238Leu)
NM_021830.5(TWNK):c.733C>T (p.His245Tyr)
NM_021830.5(TWNK):c.751C>G (p.Pro251Ala)
NM_021830.5(TWNK):c.752C>T (p.Pro251Leu)
NM_021830.5(TWNK):c.760A>C (p.Ser254Arg)
NM_021830.5(TWNK):c.764G>A (p.Arg255His)
NM_021830.5(TWNK):c.764G>C (p.Arg255Pro)
NM_021830.5(TWNK):c.767G>T (p.Arg256Leu) rs1851677492
NM_021830.5(TWNK):c.769G>A (p.Asp257Asn)
NM_021830.5(TWNK):c.77G>T (p.Gly26Val) rs772221026
NM_021830.5(TWNK):c.787A>T (p.Thr263Ser)
NM_021830.5(TWNK):c.793C>T (p.Arg265Cys) rs764669712
NM_021830.5(TWNK):c.794G>A (p.Arg265His)
NM_021830.5(TWNK):c.838A>T (p.Thr280Ser)
NM_021830.5(TWNK):c.841C>T (p.Leu281Phe)
NM_021830.5(TWNK):c.869T>C (p.Leu290Ser) rs2133937397
NM_021830.5(TWNK):c.872C>T (p.Pro291Leu) rs1851684418
NM_021830.5(TWNK):c.874C>A (p.Pro292Thr) rs759603316
NM_021830.5(TWNK):c.874C>T (p.Pro292Ser)
NM_021830.5(TWNK):c.878C>T (p.Ala293Val) rs1564808387
NM_021830.5(TWNK):c.882A>C (p.Leu294Phe)
NM_021830.5(TWNK):c.887C>T (p.Pro296Leu) rs1240963100
NM_021830.5(TWNK):c.902T>C (p.Phe301Ser)
NM_021830.5(TWNK):c.905G>A (p.Arg302Gln)
NM_021830.5(TWNK):c.937C>T (p.Arg313Trp)
NM_021830.5(TWNK):c.956A>G (p.Lys319Arg)
NM_021830.5(TWNK):c.95C>G (p.Ala32Gly)
NM_021830.5(TWNK):c.968G>A (p.Arg323Gln)
NM_021830.5(TWNK):c.986G>A (p.Arg329Gln)
NM_021830.5(TWNK):c.989G>C (p.Cys330Ser) rs1851690067

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