List of variants in gene DYSF reported as pathogenic by Neuberg Centre For Genomic Medicine, NCGM

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)	rs121908958	0.00007
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter)	rs727503911	0.00003
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp)	rs377735262	0.00001
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs)	rs398123786
NM_001130987.2(DYSF):c.5757del (p.Glu1920fs)	rs1573100371

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