ClinVar Miner

List of variants in gene TWNK reported by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 19
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HGVS dbSNP gnomAD frequency
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.1102G>A (p.Val368Ile) rs17113613 0.04615
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130 0.00135
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.434C>T (p.Ala145Val) rs143938897 0.00013
NM_021830.5(TWNK):c.2015C>G (p.Pro672Arg) rs199583659 0.00010
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) rs369223258 0.00009
NM_021830.5(TWNK):c.1112G>A (p.Arg371Gln) rs143309797 0.00006
NM_021830.5(TWNK):c.566C>T (p.Thr189Ile) rs367943955 0.00002
NM_021830.5(TWNK):c.107C>T (p.Pro36Leu) rs954019330 0.00001
NM_021830.5(TWNK):c.1618G>A (p.Gly540Arg) rs568256888 0.00001
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) rs886046632 0.00001
NM_021830.5(TWNK):c.1285G>T (p.Ala429Ser)
NM_021830.5(TWNK):c.1301C>A (p.Ser434Tyr)
NM_021830.5(TWNK):c.1338C>G (p.Ile446Met) rs766151894
NM_021830.5(TWNK):c.68del (p.Gly23fs) rs2133934281
NM_021830.5(TWNK):c.700G>A (p.Glu234Lys)

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