ClinVar Miner

List of variants in gene TSKU reported by Ambry Genetics

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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_015516.4(TSKU):c.31G>A (p.Val11Met) rs202220235 0.00032
NM_015516.4(TSKU):c.335C>T (p.Ser112Leu) rs150218579 0.00019
NM_015516.4(TSKU):c.151A>T (p.Ile51Phe) rs140232134 0.00011
NM_015516.4(TSKU):c.364G>A (p.Ala122Thr) rs142984672 0.00011
NM_015516.4(TSKU):c.430C>T (p.Arg144Trp) rs143993207 0.00009
NM_015516.4(TSKU):c.730G>C (p.Glu244Gln) rs768003667 0.00007
NM_015516.4(TSKU):c.403G>A (p.Asp135Asn) rs200202157 0.00005
NM_015516.4(TSKU):c.497A>C (p.His166Pro) rs142190066 0.00005
NM_015516.4(TSKU):c.737C>T (p.Ala246Val) rs201426204 0.00005
NM_015516.4(TSKU):c.860C>T (p.Ser287Leu) rs367560521 0.00004
NM_015516.4(TSKU):c.323G>A (p.Arg108His) rs760910965 0.00003
NM_015516.4(TSKU):c.548C>T (p.Ala183Val) rs778328730 0.00003
NM_015516.4(TSKU):c.871C>G (p.Leu291Val) rs776667905 0.00003
NM_015516.4(TSKU):c.1033T>C (p.Ser345Pro) rs950600348 0.00002
NM_015516.4(TSKU):c.242C>G (p.Pro81Arg) rs761996929 0.00002
NM_015516.4(TSKU):c.482A>C (p.His161Pro) rs200400905 0.00002
NM_015516.4(TSKU):c.530C>T (p.Thr177Met) rs749986558 0.00002
NM_015516.4(TSKU):c.1003G>T (p.Val335Leu) rs771653839 0.00001
NM_015516.4(TSKU):c.158C>T (p.Pro53Leu) rs779955198 0.00001
NM_015516.4(TSKU):c.458C>T (p.Thr153Met) rs200873251 0.00001
NM_015516.4(TSKU):c.512G>A (p.Arg171His) rs1214798445 0.00001
NM_015516.4(TSKU):c.595G>A (p.Val199Met) rs1343652878 0.00001
NM_015516.4(TSKU):c.898C>T (p.Leu300Phe) rs537110468 0.00001
NM_015516.4(TSKU):c.983G>C (p.Arg328Thr) rs890129397 0.00001
NM_015516.4(TSKU):c.1027C>T (p.Arg343Trp) rs200686423
NM_015516.4(TSKU):c.206G>A (p.Arg69Gln)
NM_015516.4(TSKU):c.236C>T (p.Ala79Val)
NM_015516.4(TSKU):c.251C>T (p.Thr84Met)
NM_015516.4(TSKU):c.308C>A (p.Ala103Asp) rs1590821303
NM_015516.4(TSKU):c.308C>T (p.Ala103Val) rs1590821303
NM_015516.4(TSKU):c.31G>C (p.Val11Leu) rs202220235
NM_015516.4(TSKU):c.322C>T (p.Arg108Cys)
NM_015516.4(TSKU):c.376G>A (p.Glu126Lys)
NM_015516.4(TSKU):c.412C>T (p.Leu138Phe)
NM_015516.4(TSKU):c.584G>A (p.Arg195Gln)
NM_015516.4(TSKU):c.671C>A (p.Ala224Asp) rs769827519
NM_015516.4(TSKU):c.671C>T (p.Ala224Val) rs769827519
NM_015516.4(TSKU):c.751C>T (p.Arg251Cys) rs149185997
NM_015516.4(TSKU):c.809C>T (p.Ala270Val)
NM_015516.4(TSKU):c.862G>C (p.Gly288Arg)
NM_015516.4(TSKU):c.944G>A (p.Arg315Gln)
NM_015516.4(TSKU):c.949C>T (p.Arg317Trp)
NM_015516.4(TSKU):c.958G>C (p.Val320Leu) rs757427379
NM_015516.4(TSKU):c.998C>G (p.Pro333Arg)

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