ClinVar Miner

List of variants in gene TWNK reported as uncertain significance by GeneDx

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) rs116046810 0.00126
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.169G>A (p.Ala57Thr) rs373068264 0.00011
NM_021830.5(TWNK):c.1052A>G (p.Asn351Ser) rs370231886 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.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.1022G>A (p.Arg341His) rs764350676 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.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.799C>G (p.Leu267Val) rs139419993 0.00001
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) rs374997012 0.00001
GRCh37/hg19 10q24.31(chr10:102747410-102754099)x3
NM_021830.5(TWNK):c.1014G>C (p.Gln338His) rs1183712053
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.1115A>C (p.Gln372Pro) rs984995611
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.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.1366C>G (p.Leu456Val) rs386834145
NM_021830.5(TWNK):c.1414G>A (p.Asp472Asn) rs1057523561
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.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.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.223C>T (p.His75Tyr) rs1590017444
NM_021830.5(TWNK):c.247C>T (p.Pro83Ser) rs386834147
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.869T>C (p.Leu290Ser) rs2133937397
NM_021830.5(TWNK):c.872C>T (p.Pro291Leu) rs1851684418

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