ClinVar Miner

List of variants in gene combination ESR1, SYNE1 reported as benign for Emery-Dreifuss muscular dystrophy 4, autosomal dominant

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.*182G>A rs12681 0.23624
NM_033071.4(SYNE1):c.*750G>T rs2813558 0.23608
NM_182961.4(SYNE1):c.*103C>A rs2250122 0.19913
NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met) rs2295190 0.10350
NM_182961.4(SYNE1):c.*583A>G rs3756933 0.02216
NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser) rs2295191 0.00898
NM_182961.4(SYNE1):c.*95C>T rs139397787 0.00066
NM_182961.4(SYNE1):c.*191A>G rs567194577 0.00049
NM_182961.4(SYNE1):c.26212C>T (p.Arg8738Cys) rs144206837 0.00034
NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=) rs200880341 0.00021
NM_182961.4(SYNE1):c.26204G>A (p.Arg8735Gln) rs2295192

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