List of variants in gene FKTN reported as pathogenic for Dilated cardiomyopathy 1X

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)	rs267606814	0.00002
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter)	rs119463990	0.00001
NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter)	rs119463991	0.00001
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)	rs746763506	0.00001
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)	rs119463992	0.00001
NM_001079802.2(FKTN):c.1073A>C (p.Gln358Pro)	rs119463993
NM_001079802.2(FKTN):c.1106del (p.Phe369fs)	rs750176716
NM_001079802.2(FKTN):c.1167del (p.Lys389fs)	rs398123555
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)	rs398123555
NM_001079802.2(FKTN):c.1176C>A (p.Tyr392Ter)	rs1203741361
NM_001079802.2(FKTN):c.165+1427A>G	rs557096550
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)	rs537001725
NM_001079802.2(FKTN):c.536G>C (p.Arg179Thr)	rs119463994
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)	rs398123557
NM_001079802.2(FKTN):c.648-1243G>T	rs1554754182
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter)	rs377417974
NM_001079802.2(FKTN):c.78C>G (p.Tyr26Ter)	rs369797361
NM_006731.2(FKTN):c.4392_4393ins[AB185332.1]

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