ClinVar Miner

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

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP
NM_001079802.2(FKTN):c.*1018T>A rs16924759
NM_001079802.2(FKTN):c.*1229A>G
NM_001079802.2(FKTN):c.*1249C>T rs79589823
NM_001079802.2(FKTN):c.*2213A>G
NM_001079802.2(FKTN):c.*2427G>T
NM_001079802.2(FKTN):c.*2910C>A rs148937517
NM_001079802.2(FKTN):c.*4825T>C rs115155934
NM_001079802.2(FKTN):c.*777C>A
NM_001079802.2(FKTN):c.*818C>T rs79162268
NM_001079802.2(FKTN):c.-158G>C rs4742953
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806
NM_001079802.2(FKTN):c.102A>C (p.Thr34=) rs138740640
NM_001079802.2(FKTN):c.1158A>G (p.Thr386=) rs886044528
NM_001079802.2(FKTN):c.1185G>A (p.Pro395=) rs141886790
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn) rs146272618
NM_001079802.2(FKTN):c.1236C>A (p.Pro412=) rs1554766880
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432
NM_001079802.2(FKTN):c.12C>T (p.Ile4=) rs1389073650
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile) rs374912618
NM_001079802.2(FKTN):c.1383T>C (p.Tyr461=)
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171
NM_001079802.2(FKTN):c.198C>G (p.Ser66=) rs367868644
NM_001079802.2(FKTN):c.21C>T (p.Asn7=) rs564632018
NM_001079802.2(FKTN):c.285T>C (p.His95=) rs148046151
NM_001079802.2(FKTN):c.30G>A (p.Leu10=) rs202047149
NM_001079802.2(FKTN):c.333T>C (p.Thr111=) rs141729611
NM_001079802.2(FKTN):c.342A>G (p.Ala114=) rs368598407
NM_001079802.2(FKTN):c.355C>T (p.Leu119=) rs1554751390
NM_001079802.2(FKTN):c.357A>G (p.Leu119=) rs760933616
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675
NM_001079802.2(FKTN):c.402A>T (p.Gly134=) rs780921233
NM_001079802.2(FKTN):c.444C>T (p.Asp148=) rs759808323
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999
NM_001079802.2(FKTN):c.63G>C (p.Leu21=) rs766642997
NM_001079802.2(FKTN):c.681G>A (p.Leu227=) rs142604625
NM_001079802.2(FKTN):c.766C>A (p.Arg256=) rs377417974
NM_001079802.2(FKTN):c.855G>A (p.Ala285=) rs1057521448
NM_001079802.2(FKTN):c.869A>T (p.Lys290Ile) rs755092516
NM_006731.2(FKTN):c.1023G>T (p.Pro341=)
NM_006731.2(FKTN):c.1173-8T>C rs767093535
NM_006731.2(FKTN):c.1185G>T (p.Pro395=)
NM_006731.2(FKTN):c.1218C>T (p.Asp406=)
NM_006731.2(FKTN):c.166-6A>G rs41277795
NM_006731.2(FKTN):c.207T>C (p.Asn69=)
NM_006731.2(FKTN):c.558C>T (p.His186=)
NM_006731.2(FKTN):c.781-4G>A
NM_006731.2(FKTN):c.781-9T>C rs370564232
NM_006731.2(FKTN):c.910+14G>A rs76180538
NM_006731.2(FKTN):c.911-8C>A rs749557617

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