ClinVar Miner

List of variants in gene DYSF reported as likely pathogenic by Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre

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Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.1530del (p.Tyr511fs) rs786205632
NM_001130987.2(DYSF):c.727A>G (p.Lys243Glu) rs786205525
NM_001130987.2(DYSF):c.92-1G>A rs786205524

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