ClinVar Miner

List of variants in gene TWNK reported by GeneDx

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Gene type:
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Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_021830.5(TWNK):c.1485-259_1485-254del rs148155886 0.37222
NM_021830.5(TWNK):c.-605G>T rs3740484 0.35155
NM_021830.5(TWNK):c.1734+84G>A rs3824783 0.28833
NM_021830.5(TWNK):c.1593-5C>T rs3740485 0.28642
NM_021830.5(TWNK):c.1593-3T>C rs3740486 0.28631
NM_021830.5(TWNK):c.1735-202G>A rs4919511 0.27246
NM_021830.5(TWNK):c.*521C>G rs11542131 0.08029
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile) rs17113613 0.04615
NM_021830.5(TWNK):c.*204G>A rs61871507 0.01328
NM_021830.5(TWNK):c.1485-255C>T rs2863096 0.01136
NM_021830.5(TWNK):c.-241C>T rs113159821 0.00734
NM_021830.5(TWNK):c.1735-260G>A rs181827983 0.00474
NM_021830.5(TWNK):c.1735-269G>T rs189427818 0.00474
NM_021830.5(TWNK):c.*455C>T rs148810959 0.00460
NM_021830.5(TWNK):c.1593-76T>C rs116741051 0.00431
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130 0.00135
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) rs116046810 0.00126
NM_021830.5(TWNK):c.1735-14C>A rs201795189 0.00121
NM_021830.5(TWNK):c.1596C>T (p.Ile532=) rs146690237 0.00078
NM_021830.5(TWNK):c.384C>T (p.Ser128=) rs148234280 0.00045
NM_021830.5(TWNK):c.1485-11C>T rs374567545 0.00039
NM_021830.5(TWNK):c.241C>G (p.Leu81Val) rs145068570 0.00033
NM_021830.5(TWNK):c.801T>G (p.Leu267=) rs149630750 0.00029
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
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.1734+17G>A rs370918187 0.00015
NM_021830.5(TWNK):c.75G>A (p.Arg25=) rs140229023 0.00014
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.1485G>A (p.Arg495=) rs202197777 0.00008
NM_021830.5(TWNK):c.1112G>A (p.Arg371Gln) rs143309797 0.00006
NM_021830.5(TWNK):c.726C>T (p.Ser242=) rs772106344 0.00006
NM_021830.5(TWNK):c.1713G>A (p.Ala571=) rs377742767 0.00005
NM_021830.5(TWNK):c.1070G>A (p.Arg357His) rs758026634 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.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.198G>A (p.Gly66=) rs752613820 0.00002
NM_021830.5(TWNK):c.1022G>A (p.Arg341His) rs764350676 0.00001
NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp) rs267606682 0.00001
NM_021830.5(TWNK):c.1181G>A (p.Arg394His) rs752211501 0.00001
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_021830.5(TWNK):c.1224C>T (p.Gly408=) rs923943932 0.00001
NM_021830.5(TWNK):c.1229T>G (p.Leu410Arg) rs749345054 0.00001
NM_021830.5(TWNK):c.1244-14C>T rs758757135 0.00001
NM_021830.5(TWNK):c.1270T>C (p.Phe424Leu) rs1356896874 0.00001
NM_021830.5(TWNK):c.1429C>T (p.Arg477Cys) rs760427334 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.1627C>T (p.Arg543Trp) rs779788390 0.00001
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) rs886046632 0.00001
NM_021830.5(TWNK):c.193C>T (p.Arg65Trp) rs753640924 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.638G>T (p.Gly213Val) rs1057524510 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.904C>T (p.Arg302Trp) rs374997012 0.00001
NM_021830.5(TWNK):c.967C>T (p.Arg323Ter) rs863223919 0.00001
GRCh37/hg19 10q24.31(chr10:102747410-102754099)x3
NM_021830.5(TWNK):c.-306GT[1] rs146265037
NM_021830.5(TWNK):c.1003C>A (p.Pro335Thr) rs1554887028
NM_021830.5(TWNK):c.1014G>C (p.Gln338His) rs1183712053
NM_021830.5(TWNK):c.1033G>T (p.Ala345Ser) rs1554887046
NM_021830.5(TWNK):c.1034C>T (p.Ala345Val)
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.1110C>G (p.Phe370Leu) rs863223920
NM_021830.5(TWNK):c.1115A>C (p.Gln372Pro) rs984995611
NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln) rs1554887097
NM_021830.5(TWNK):c.1147A>G (p.Asn383Asp) rs1085307565
NM_021830.5(TWNK):c.1166G>T (p.Gly389Val)
NM_021830.5(TWNK):c.116G>A (p.Arg39His) rs1057523065
NM_021830.5(TWNK):c.1183T>C (p.Phe395Leu) rs1440229445
NM_021830.5(TWNK):c.1289T>A (p.Leu430Gln) rs1564809091
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.1338C>T (p.Ile446=) rs766151894
NM_021830.5(TWNK):c.1364T>C (p.Met455Thr) rs1554887207
NM_021830.5(TWNK):c.1366C>G (p.Leu456Val) rs386834145
NM_021830.5(TWNK):c.1414G>A (p.Asp472Asn) rs1057523561
NM_021830.5(TWNK):c.1435G>A (p.Glu479Lys) rs1085307937
NM_021830.5(TWNK):c.1462_1463del (p.Phe488fs) rs863223925
NM_021830.5(TWNK):c.1537G>C (p.Val513Leu) rs863223924
NM_021830.5(TWNK):c.1590C>T (p.Asp530=) rs2133941470
NM_021830.5(TWNK):c.1593-6G>A rs768295912
NM_021830.5(TWNK):c.1628G>A (p.Arg543Gln) rs753386843
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+16C>A rs3740487
NM_021830.5(TWNK):c.181C>T (p.Arg61Cys)
NM_021830.5(TWNK):c.1916AGA[1] (p.Lys640del)
NM_021830.5(TWNK):c.1954C>A (p.Pro652Thr) rs267602340
NM_021830.5(TWNK):c.198dup (p.His67fs) rs1554886713
NM_021830.5(TWNK):c.2045G>A (p.Arg682His) rs182559752
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.30C>T (p.Pro10=) rs759909116
NM_021830.5(TWNK):c.340A>T (p.Met114Leu) rs863223916
NM_021830.5(TWNK):c.388G>C (p.Glu130Gln) rs1285025956
NM_021830.5(TWNK):c.561_563dup (p.Asp188dup) rs2133936093
NM_021830.5(TWNK):c.691G>C (p.Val231Leu)
NM_021830.5(TWNK):c.752C>T (p.Pro251Leu)
NM_021830.5(TWNK):c.853C>T (p.Arg285Ter) rs1564808324
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.879C>T (p.Ala293=) rs775515511
NM_021830.5(TWNK):c.907C>T (p.Arg303Trp) rs1159929268

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