ClinVar Miner

List of variants in gene DYSF reported by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro) rs200916654 0.00003
NM_001130987.2(DYSF):c.1493+2dup rs753885022
NM_001130987.2(DYSF):c.2217-1G>T rs886044379
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.4701C>G (p.Tyr1567Ter) rs770905160
NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp) rs1131692158
NM_001130987.2(DYSF):c.730del (p.Leu244fs) rs1553521119
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp) rs121908963
NM_003494.4(DYSF):c.[1670T>C];[4701C>G]

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