List of variants in gene DYSF reported as likely pathogenic for Autosomal recessive limb-girdle 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys)	rs757820496	0.00001
NM_001130987.2(DYSF):c.6021G>A (p.Trp2007Ter)	rs1553420848	0.00001
NC_000002.11:g.(71748035_71753349)_(71766370_71776479)dup
NC_000002.11:g.(?_71680752)_(71681217_71708012)del
NM_001130987.2(DYSF):c.1149+5G>A	rs1023002894
NM_001130987.2(DYSF):c.3091G>T (p.Glu1031Ter)
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp)	rs1553556116
NM_001130987.2(DYSF):c.3687del (p.Phe1229fs)
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)	rs576130413
NM_001130987.2(DYSF):c.4794dup (p.Ile1599fs)	rs2152940961
NM_001130987.2(DYSF):c.5885-1G>A
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu)	rs398123807

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