ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 5
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HGVS dbSNP
NM_033071.3(SYNE1):c.26029G>A (p.Asp8677Asn) rs767663894
NM_033071.3(SYNE1):c.26051G>A (p.Gly8684Glu) rs1554349162
NM_033071.3(SYNE1):c.26063C>A (p.Ser8688Tyr) rs1258213221
NM_033071.3(SYNE1):c.26186C>G (p.Ser8729Cys) rs377446250
NM_033071.3(SYNE1):c.26228C>T (p.Thr8743Met) rs567376316

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