ClinVar Miner

List of variants in gene DYSF reported by GeniaGeo, Laboratorio Genia

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.1000del (p.Arg334fs) rs1573671276
NM_001130987.2(DYSF):c.3843_3858del (p.Gln1283fs) rs1574277160
NM_001130987.2(DYSF):c.4216G>T (p.Glu1406Ter) rs866823474
NM_001130987.2(DYSF):c.5516_5517dup (p.Phe1840fs) rs1558783870
NM_001130987.2(DYSF):c.5571G>C (p.Trp1857Cys) rs1573094789
NM_001130987.2(DYSF):c.5850G>A (p.Trp1950Ter) rs1573138336

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