ClinVar Miner

List of variants in gene FKTN reported as pathogenic for congenital vitreoretinal dysplasia

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NC_000009.12:g.(?_105575023)_(105575147_?)del
NC_000009.12:g.(?_105606576)_(105641128_?)del
NM_001079802.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter) rs1588222602
NM_001079802.2(FKTN):c.1167_1168dup (p.Phe390fs) rs1588222870
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter) rs119463990
NM_001079802.2(FKTN):c.329_330del (p.Phe110fs)
NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter) rs119463991
NM_001079802.2(FKTN):c.403_404insGCCTAAATCT (p.Phe135fs) rs1564290459
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer) rs1309132512
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser) rs119463996
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001079802.2(FKTN):c.658C>T (p.Gln220Ter)
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter)
NM_001079802.2(FKTN):c.868A>T (p.Lys290Ter) rs1438288380
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) rs119463992
NM_006731.2(FKTN):c.432del (p.Arg146fs) rs1588110929

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