ClinVar Miner

List of variants in gene FKTN reported as likely benign for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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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.-158G>C rs4742953 0.27121
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.*4825T>C rs115155934 0.01517
NM_001079802.2(FKTN):c.*818C>T rs79162268 0.01167
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.*1229A>G rs116549376 0.00711
NM_001079802.2(FKTN):c.*2213A>G rs141298287 0.00678
NM_001079802.2(FKTN):c.*2427G>T rs116364105 0.00472
NM_001079802.2(FKTN):c.*1018T>A rs16924759 0.00204
NM_001079802.2(FKTN):c.*2910C>A rs148937517 0.00041
NM_001079802.2(FKTN):c.*1249C>T rs79589823 0.00039
NM_001079802.2(FKTN):c.910+13C>T rs375259473 0.00026
NM_001079802.2(FKTN):c.*777C>A rs369316426 0.00001
NM_001079802.2(FKTN):c.1299G>A (p.Thr433=) rs912930168 0.00001
NM_001079802.2(FKTN):c.1311G>A (p.Lys437=) rs904253784 0.00001
NM_001079802.2(FKTN):c.1044+17G>C rs200801909

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