ClinVar Miner

List of variants in gene DYSF reported as likely pathogenic for Dysferlinopathy

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Gene type:
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Total variants: 8
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NM_003494.3(DYSF):c.1053+1G>A rs398123763
NM_003494.3(DYSF):c.154T>A (p.Trp52Arg) rs1553508863
NM_003494.3(DYSF):c.3113G>A rs150877497
NM_003494.3(DYSF):c.3444T>A (p.Tyr1148Ter) rs758944159
NM_003494.3(DYSF):c.4253G>A (p.Gly1418Asp) rs398123787
NM_003494.3(DYSF):c.457+1G>A rs1278864604
NM_003494.3(DYSF):c.5077C>T (p.Arg1693Trp) rs863225021

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