ClinVar Miner

List of variants in gene DYSF reported as not provided for Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset; Qualitative or quantitative defects of dysferlin; Miyoshi myopathy

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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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001130987.2(DYSF):c.2402C>T (p.Ala801Val)	rs147139414	0.00059
NM_001130987.2(DYSF):c.794C>T (p.Pro265Leu)	rs143053635	0.00054

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