ClinVar Miner

List of variants in gene FKTN reported as pathogenic for cobblestone lissencephaly

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_006731.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_006731.2(FKTN):c.1153A>T (p.Lys385Ter)
NM_006731.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_006731.2(FKTN):c.139C>T (p.Arg47Ter) rs119463990
NM_006731.2(FKTN):c.403_404insGCCTAAATCT (p.Phe135fs) rs1564290459
NM_006731.2(FKTN):c.42del (p.Thr14_Leu15insTer) rs1309132512
NM_006731.2(FKTN):c.432del (p.Arg146fs)
NM_006731.2(FKTN):c.527T>C (p.Phe176Ser) rs119463996
NM_006731.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506
NM_006731.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_006731.2(FKTN):c.868A>T (p.Lys290Ter)
NM_006731.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814

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