ClinVar Miner

List of variants in gene FKTN reported as likely benign for cobblestone lissencephaly

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_006731.2(FKTN):c.*5618T>A rs1048215
NM_006731.2(FKTN):c.*786T>G rs10978177
NM_006731.2(FKTN):c.-88-1268G>C rs4742953
NM_006731.2(FKTN):c.1026C>A (p.Leu342=) rs17309806
NM_006731.2(FKTN):c.102A>C (p.Thr34=) rs138740640
NM_006731.2(FKTN):c.1173-8T>C rs767093535
NM_006731.2(FKTN):c.1236C>A (p.Pro412=) rs1554766880
NM_006731.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432
NM_006731.2(FKTN):c.12C>T (p.Ile4=) rs1389073650
NM_006731.2(FKTN):c.167G>A (p.Arg56His) rs146951171
NM_006731.2(FKTN):c.258C>T (p.Asn86=) rs1554751233
NM_006731.2(FKTN):c.285T>C (p.His95=) rs148046151
NM_006731.2(FKTN):c.30G>A (p.Leu10=) rs202047149
NM_006731.2(FKTN):c.333T>C (p.Thr111=) rs141729611
NM_006731.2(FKTN):c.355C>T (p.Leu119=) rs1554751390
NM_006731.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999
NM_006731.2(FKTN):c.681G>A (p.Leu227=) rs142604625
NM_006731.2(FKTN):c.75G>A (p.Leu25=) rs188900946
NM_006731.2(FKTN):c.766C>A (p.Arg256=) rs377417974
NM_006731.2(FKTN):c.781-9T>C rs370564232

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