List of variants in gene DYSF reported as pathogenic by Fulgent Genetics, Fulgent Genetics

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001130987.2(DYSF):c.2697+1G>A	rs140108514	0.00046
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter)	rs727503911	0.00003
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)	rs202218890	0.00002
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter)	rs758180890	0.00001
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)	rs746873768	0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs)	rs398123782	0.00001
NM_001130987.2(DYSF):c.4989del (p.Glu1663fs)	rs1156805286	0.00001
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer)	rs398123781
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs)	rs398123786
NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter)	rs886043145
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)	rs766016391
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter)	rs758992291
NM_001130987.2(DYSF):c.759+1G>C	rs398123800
NM_001130987.2(DYSF):c.922del (p.Glu308fs)	rs1553522133
NM_003494.4(DYSF):c.1481-1G>A	rs398123770

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