ClinVar Miner

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

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NC_000006.11:g.(?_152443551)_(152534914_?)dup
NM_033071.3(SYNE1):c.*750G>T rs2813558
NM_182961.4(SYNE1):c.*101C>T rs571719631
NM_182961.4(SYNE1):c.*103C>A rs2250122
NM_182961.4(SYNE1):c.*138A>G
NM_182961.4(SYNE1):c.*166G>A
NM_182961.4(SYNE1):c.*181C>T
NM_182961.4(SYNE1):c.*182G>A rs12681
NM_182961.4(SYNE1):c.*186G>A
NM_182961.4(SYNE1):c.*191A>G rs567194577
NM_182961.4(SYNE1):c.*295T>C rs886061190
NM_182961.4(SYNE1):c.*368T>C
NM_182961.4(SYNE1):c.*433A>G rs886061189
NM_182961.4(SYNE1):c.*449T>A
NM_182961.4(SYNE1):c.*449T>C rs886061188
NM_182961.4(SYNE1):c.*515T>C rs886061187
NM_182961.4(SYNE1):c.*583A>G rs3756933
NM_182961.4(SYNE1):c.*95C>T rs139397787
NM_182961.4(SYNE1):c.26173G>A (p.Asp8725Asn) rs767663894
NM_182961.4(SYNE1):c.26177C>T (p.Ser8726Phe) rs751627369
NM_182961.4(SYNE1):c.26180C>T (p.Ser8727Phe) rs1585315718
NM_182961.4(SYNE1):c.26195G>A (p.Gly8732Glu) rs1554349162
NM_182961.4(SYNE1):c.26204G>A (p.Arg8735Gln) rs2295192
NM_182961.4(SYNE1):c.26204G>T (p.Arg8735Leu) rs2295192
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.26212C>T (p.Arg8738Cys) rs144206837
NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met) rs2295190
NM_182961.4(SYNE1):c.26237G>A (p.Arg8746Gln) rs757466963
NM_182961.4(SYNE1):c.26278G>A (p.Gly8760Arg)
NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=) rs200880341
NM_182961.4(SYNE1):c.26330C>G (p.Ser8777Cys) rs377446250
NM_182961.4(SYNE1):c.26362C>T (p.Leu8788Phe)
NM_182961.4(SYNE1):c.26372C>T (p.Thr8791Met) rs567376316
NM_182961.4(SYNE1):c.26373G>A (p.Thr8791=) rs370645510

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