List of variants in gene FKTN reported as pathogenic for not provided

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: 17

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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.369+1G>C	rs764125009	0.00001
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)	rs746763506	0.00001
NM_001079802.2(FKTN):c.911-1G>A	rs958678700	0.00001
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)	rs119463992	0.00001
NM_001079802.1(FKTN):c.4375_4376ins3062
NM_001079802.1(FKTN):c.657dup (p.Gln220Thrfs)	rs1554754678
NM_001079802.2(FKTN):c.1167del (p.Lys389fs)	rs398123555
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)	rs398123555
NM_001079802.2(FKTN):c.1317_1318dup (p.Pro440fs)	rs886042778
NM_001079802.2(FKTN):c.1371_1381dup (p.Tyr461fs)	rs727502847
NM_001079802.2(FKTN):c.330dup (p.Thr111fs)	rs767865405
NM_001079802.2(FKTN):c.369+1G>T	rs764125009
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)	rs537001725
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs)	rs760731888
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)	rs398123557

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