ClinVar Miner

List of variants in gene FKTN studied for Autosomal recessive limb-girdle muscular dystrophy type 2M

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998 0.00002
NM_001079802.2(FKTN):c.366T>G (p.Asn122Lys) rs150591365 0.00001
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) rs119463992 0.00001
NM_001079802.2(FKTN):c.*42del rs749100291
NM_001079802.2(FKTN):c.-45G>T rs77013649
NM_001079802.2(FKTN):c.1150G>T (p.Ala384Ser) rs1343750016
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001079802.2(FKTN):c.1256T>A (p.Ile419Asn)
NM_001079802.2(FKTN):c.1363del (p.Asp455fs) rs587777814
NM_001079802.2(FKTN):c.165+5G>A rs2132596368
NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn) rs2132016533
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr) rs119463995
NM_001079802.2(FKTN):c.398del (p.Met133fs)
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser) rs119463996
NM_001079802.2(FKTN):c.824A>G (p.Lys275Arg) rs2133099564
NM_001079802.2(FKTN):c.934A>G (p.Ile312Val) rs2133161218
NM_001079802.2(FKTN):c.977A>G (p.Asp326Gly) rs759791267

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