ClinVar Miner

List of variants studied for Emery-Dreifuss muscular dystrophy 5, autosomal dominant by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_182914.3(SYNE2):c.8404A>G (p.Ser2802Gly) rs1890908 0.91221
NM_182914.3(SYNE2):c.15556C>A (p.Leu5186Met) rs10151658 0.56664
NM_182914.3(SYNE2):c.19333+5C>T rs1152590 0.50736
NM_182914.3(SYNE2):c.17938T>C (p.Leu5980=) rs2256191 0.47326
NM_182914.3(SYNE2):c.4578-4T>A rs7146588 0.30679
NM_182914.3(SYNE2):c.1721T>C (p.Ile574Thr) rs9944035 0.08879
NM_182914.3(SYNE2):c.12001T>C (p.Trp4001Arg) rs2792205 0.08782
NM_182914.3(SYNE2):c.12002G>A (p.Trp4001Ter) rs2781377 0.08740
NM_182914.3(SYNE2):c.19248C>G (p.Pro6416=) rs150363140 0.00116
NM_182914.3(SYNE2):c.12572G>A (p.Gly4191Asp) rs145227848 0.00094

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