List of variants in gene DYSF reported as likely benign for Miyoshi myopathy

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: 30

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HGVS	dbSNP	gnomAD frequency
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=)	rs17718530	0.23571
NM_001130987.2(DYSF):c.6321+15C>T	rs2559082	0.19470
NM_001130987.2(DYSF):c.1276+11C>T	rs35982795	0.15096
NM_001130987.2(DYSF):c.396C>T (p.Pro132=)	rs34603128	0.14353
NM_001130987.2(DYSF):c.888+11T>C	rs13428076	0.13574
NM_001130987.2(DYSF):c.951+4T>C	rs11903960	0.09951
NM_001130987.2(DYSF):c.1038C>T (p.His346=)	rs36122356	0.06463
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val)	rs34671418	0.04349
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=)	rs35721373	0.03282
NM_001130987.2(DYSF):c.666T>C (p.Pro222=)	rs35392229	0.03244
NM_001130987.2(DYSF):c.1577-1635C>G	rs76402294	0.03029
NM_001130987.2(DYSF):c.*199T>G	rs13429381	0.02954
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val)	rs13407355	0.02232
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=)	rs2303607	0.02075
NM_001130987.2(DYSF):c.889-34C>T	rs115184725	0.01903
NM_001130987.2(DYSF):c.3228+208A>C	rs143560409	0.00838
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=)	rs7573406	0.00792
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)	rs34997054	0.00411
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn)	rs115013641	0.00257
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=)	rs147263499	0.00143
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr)	rs146384562	0.00124
NM_001130987.2(DYSF):c.3228+205C>A	rs149264392	0.00072
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)	rs199955501	0.00010
NM_001130987.2(DYSF):c.1281C>T (p.Asp427=)	rs147244033	0.00007
NM_001130987.2(DYSF):c.2148G>A (p.Ala716=)	rs201239189	0.00004
NM_001130987.2(DYSF):c.1905C>T (p.Ile635=)	rs567956595	0.00001
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3])	rs398123779
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=)	rs79899601
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=)	rs148858485
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu)	rs34999029

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