List of variants in gene DYSF reported as likely 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)	rs121908958	0.00006
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)	rs149827237	0.00004
NM_001130987.2(DYSF):c.1149+1G>A	rs398123763	0.00002
NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg)	rs776472879	0.00001
NM_001130987.2(DYSF):c.1002+4A>G	rs905322985
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)	rs750028300
NM_001130987.2(DYSF):c.342del (p.Ala116fs)	rs886042379
NM_001130987.2(DYSF):c.5317+1G>A	rs773386253
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)	rs786205084

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