ClinVar Miner

List of variants in gene FKTN reported by Integrated Genetics/Laboratory Corporation of America

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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_006731.2(FKTN):c.1023G>A (p.Pro341=) rs146967918
NM_006731.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_006731.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_006731.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432
NM_006731.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301
NM_006731.2(FKTN):c.166-4A>G rs193922689
NM_006731.2(FKTN):c.166-6A>G rs41277795
NM_006731.2(FKTN):c.333T>C (p.Thr111=) rs141729611
NM_006731.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506
NM_006731.2(FKTN):c.648-1243G>T rs1554754182
NM_006731.2(FKTN):c.748T>C (p.Cys250Arg) rs398123558
NM_006731.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814

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