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: 24

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HGVS	dbSNP	gnomAD frequency
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp)	rs199870606	0.00010
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu)	rs398123807	0.00002
NM_001130987.2(DYSF):c.1149+5G>A	rs1023002894	0.00001
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp)	rs1553556116	0.00001
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)	rs576130413	0.00001
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys)	rs757820496	0.00001
NM_001130987.2(DYSF):c.5413G>A (p.Glu1805Lys)	rs771402331	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.1100G>A (p.Gly367Asp)
NM_001130987.2(DYSF):c.1100G>C (p.Gly367Ala)
NM_001130987.2(DYSF):c.1276+5G>C	rs766433603
NM_001130987.2(DYSF):c.1372G>A (p.Gly458Arg)	rs886042093
NM_001130987.2(DYSF):c.2695A>C (p.Thr899Pro)	rs1574042462
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys)	rs727503910
NM_001130987.2(DYSF):c.3091G>T (p.Glu1031Ter)	rs1424933941
NM_001130987.2(DYSF):c.3334T>C (p.Trp1112Arg)	rs2545876644
NM_001130987.2(DYSF):c.3687del (p.Phe1229fs)	rs2546046501
NM_001130987.2(DYSF):c.4794dup (p.Ile1599fs)	rs2152940961
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn)	rs141704244
NM_001130987.2(DYSF):c.5176T>C (p.Ser1726Pro)	rs1573060017
NM_001130987.2(DYSF):c.5643-7T>G	rs1553416025
NM_001130987.2(DYSF):c.5885-1G>A	rs771257070

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