ClinVar Miner

List of variants in gene ESR1, SYNE1 studied for Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Included ClinVar conditions (2):
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Total variants: 12
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HGVS dbSNP
NC_000006.11:g.(?_152443551)_(152534914_?)dup
NM_182961.4(SYNE1):c.26173G>A (p.Asp8725Asn) rs767663894
NM_182961.4(SYNE1):c.26177C>T (p.Ser8726Phe)
NM_182961.4(SYNE1):c.26180C>T (p.Ser8727Phe)
NM_182961.4(SYNE1):c.26195G>A (p.Gly8732Glu) rs1554349162
NM_182961.4(SYNE1):c.26204G>T (p.Arg8735Leu)
NM_182961.4(SYNE1):c.26207C>A (p.Ser8736Tyr) rs1258213221
NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser) rs2295191
NM_182961.4(SYNE1):c.26237G>A (p.Arg8746Gln) rs757466963
NM_182961.4(SYNE1):c.26330C>G (p.Ser8777Cys) rs377446250
NM_182961.4(SYNE1):c.26372C>T (p.Thr8791Met) rs567376316
NM_182961.4(SYNE1):c.26373G>A (p.Thr8791=) rs370645510

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