ClinVar Miner

List of variants in gene FKTN reported as benign for Fukuyama congenital muscular dystrophy

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Gene type:
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Total variants: 16
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HGVS dbSNP
NM_001079802.2(FKTN):c.*1133A>G rs2768282
NM_001079802.2(FKTN):c.*1638A>G
NM_001079802.2(FKTN):c.*1843A>T
NM_001079802.2(FKTN):c.*2280T>C rs1024366
NM_001079802.2(FKTN):c.*2298C>G
NM_001079802.2(FKTN):c.*3778T>C
NM_001079802.2(FKTN):c.*5041G>A rs1854124
NM_001079802.2(FKTN):c.*5062G>A rs1854125
NM_001079802.2(FKTN):c.*5260G>T rs2010861
NM_001079802.2(FKTN):c.*5517T>C rs114655654
NM_001079802.2(FKTN):c.*5618T>A rs1048215
NM_001079802.2(FKTN):c.*786T>G rs10978177
NM_001079802.2(FKTN):c.*806G>C
NM_001079802.2(FKTN):c.-45G>T rs77013649
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999

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