ClinVar Miner

List of variants in gene TWNK reported by OMIM

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp) rs267606682 0.00001
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621 0.00001
NM_021830.5(TWNK):c.1321T>G (p.Trp441Gly) rs672601361 0.00001
NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile) rs80356544 0.00001
NM_021830.5(TWNK):c.1519G>A (p.Val507Ile) rs369588002 0.00001
NM_021830.5(TWNK):c.1754A>G (p.Asn585Ser) rs672601360 0.00001
NM_021830.5(TWNK):c.908G>A (p.Arg303Gln) rs137852956 0.00001
NM_021830.5(TWNK):c.952G>A (p.Ala318Thr) rs80356542 0.00001
NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln) rs28937887
NM_021830.5(TWNK):c.1054_1092dup (p.His364_Lys365insLeuSerArgIleLeuArgThrAlaLeuProAlaTrpHis)
NM_021830.5(TWNK):c.1061G>C (p.Arg354Pro) rs111033576
NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr) rs111033573
NM_021830.5(TWNK):c.1106C>A (p.Ser369Tyr) rs111033579
NM_021830.5(TWNK):c.1142T>C (p.Leu381Pro) rs111033577
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter) rs111033574
NM_021830.5(TWNK):c.1423G>C (p.Ala475Pro) rs111033572
NM_021830.5(TWNK):c.944G>T (p.Trp315Leu) rs111033575
NM_021830.5(TWNK):c.955A>G (p.Lys319Glu) rs80356543

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