ClinVar Miner

List of variants reported as likely pathogenic for Dysferlinopathy

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Total variants: 15
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HGVS dbSNP
NM_001130987.2(DYSF):c.1003-2A>G rs1559065297
NM_001130987.2(DYSF):c.1149+1G>A rs398123763
NM_001130987.2(DYSF):c.157T>A (p.Trp53Arg) rs1553508863
NM_001130987.2(DYSF):c.2864+5G>A rs886044131
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890
NM_001130987.2(DYSF):c.3498T>A (p.Tyr1166Ter) rs758944159
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp) rs398123787
NM_001130987.2(DYSF):c.460+1G>A rs1278864604
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs) rs1553416039
NM_001130987.2(DYSF):c.5785-1G>C rs751473506
NM_003494.3(DYSF):c.3113G>A rs150877497
NM_003494.4(DYSF):c.1054-43_1059delinsA
NM_003494.4(DYSF):c.5767+1G>A

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