ClinVar Miner

List of variants in gene DYSF reported by Genetic Diseases Diagnostic Center, Koc University Hospital

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Gene type:
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.4626+1G>A rs1558708492
NM_001130987.2(DYSF):c.5711G>A (p.Gly1904Asp) rs1024524968
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
Single allele

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