List of variants in gene FKTN reported as likely pathogenic for Walker-Warburg congenital muscular dystrophy

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: 24

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HGVS	dbSNP	gnomAD frequency
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)	rs119464998	0.00002
NM_001079802.2(FKTN):c.369+1G>C	rs764125009	0.00001
NM_001079802.2(FKTN):c.911-1G>A	rs958678700	0.00001
NC_000009.11:g.(?_108377539)_(108377708_?)dup
NM_001079802.2(FKTN):c.106-1G>C	rs2132594628
NM_001079802.2(FKTN):c.106-2A>C
NM_001079802.2(FKTN):c.1176C>A (p.Tyr392Ter)	rs1203741361
NM_001079802.2(FKTN):c.1176C>G (p.Tyr392Ter)	rs1203741361
NM_001079802.2(FKTN):c.1272dup (p.Lys425Ter)
NM_001079802.2(FKTN):c.165+1G>T
NM_001079802.2(FKTN):c.166-1G>A
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr)	rs119463995
NM_001079802.2(FKTN):c.369+1G>A	rs764125009
NM_001079802.2(FKTN):c.369+2T>G
NM_001079802.2(FKTN):c.370-2A>T	rs1554752805
NM_001079802.2(FKTN):c.509C>A (p.Ala170Glu)	rs119464997
NM_001079802.2(FKTN):c.528dup (p.His177fs)	rs1588112379
NM_001079802.2(FKTN):c.647+1G>A	rs2132802825
NM_001079802.2(FKTN):c.648-2A>G
NM_001079802.2(FKTN):c.780+2T>A
NM_001079802.2(FKTN):c.780+2T>C	rs1588136441
NM_001079802.2(FKTN):c.781-1G>A
NM_001079802.2(FKTN):c.911-2A>C
NM_001079802.2(FKTN):c.919C>G (p.Arg307Gly)	rs267606814

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