ClinVar Miner

List of variants in gene FKTN reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806 0.27837
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_001079802.2(FKTN):c.42G>A (p.Thr14=) rs78794935 0.01002
NM_001079802.2(FKTN):c.106-10G>A rs148384394 0.01000
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_001079802.2(FKTN):c.166-6A>G rs41277795 0.00808
NM_001079802.2(FKTN):c.910+14G>A rs76180538 0.00806
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846 0.00224
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171 0.00218
NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln) rs143748939 0.00005
NM_001079802.2(FKTN):c.207T>C (p.Asn69=) rs752921570 0.00004
NM_001079802.2(FKTN):c.508G>A (p.Ala170Thr) rs778818366 0.00001
NM_001079802.2(FKTN):c.370-7G>A rs797045577

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