List of variants in gene DYSF reported as pathogenic by GeneDx

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: 33

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HGVS	dbSNP	gnomAD frequency
NM_001130987.2(DYSF):c.2697+1G>A	rs140108514	0.00046
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp)	rs199870606	0.00010
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs)	rs398123799	0.00005
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)	rs398123787	0.00004
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)	rs149827237	0.00004
NM_001130987.2(DYSF):c.1380+2T>C	rs398123765	0.00002
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)	rs202218890	0.00002
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)	rs121908955	0.00002
NM_001130987.2(DYSF):c.1273C>T (p.Gln425Ter)	rs1131691651	0.00001
NM_001130987.2(DYSF):c.1276+5G>A	rs766433603	0.00001
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg)	rs121908962	0.00001
NM_001130987.2(DYSF):c.1693-6T>A	rs886039573	0.00001
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)	rs746873768	0.00001
NM_001130987.2(DYSF):c.2864+1G>A	rs199954546	0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)	rs150877497	0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs)	rs398123782	0.00001
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter)	rs398123789	0.00001
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)	rs121908959	0.00001
NM_001130987.2(DYSF):c.6021G>A (p.Trp2007Ter)	rs1553420848	0.00001
NM_001130987.2(DYSF):c.1149+5G>A	rs1023002894
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter)	rs202044973
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs)	rs398123767
NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter)	rs2092204417
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter)	rs369607332
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter)	rs746315830
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs)	rs1057519132
NM_001130987.2(DYSF):c.5546+2T>A	rs1553415233
NM_001130987.2(DYSF):c.5646G>A (p.Trp1882Ter)	rs886043966
NM_001130987.2(DYSF):c.5785-7G>A	rs753861836
NM_001130987.2(DYSF):c.5815_5816del (p.Ser1939fs)	rs398123796
NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter)	rs1064794020
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)	rs727503909
NM_003494.4(DYSF):c.1481-1G>A	rs398123770

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