ClinVar Miner

List of variants in gene ESR1, SYNE1 studied for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
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Gene type:
ClinVar version:
Total variants: 62
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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.*433A>G rs886061189 0.00034
NM_182961.4(SYNE1):c.26212C>T (p.Arg8738Cys) rs144206837 0.00034
NM_182961.4(SYNE1):c.26154-2590C>G rs767099068 0.00022
NM_182961.4(SYNE1):c.*101C>T rs571719631 0.00021
NM_182961.4(SYNE1):c.*186G>A rs766338162 0.00021
NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=) rs200880341 0.00021
NM_182961.4(SYNE1):c.26373G>A (p.Thr8791=) rs370645510 0.00008
NM_182961.4(SYNE1):c.26210G>T (p.Gly8737Val) rs772814249 0.00007
NM_182961.4(SYNE1):c.26330C>G (p.Ser8777Cys) rs377446250 0.00007
NM_182961.4(SYNE1):c.26208C>T (p.Ser8736=) rs770690488 0.00004
NM_182961.4(SYNE1):c.26279G>A (p.Gly8760Glu) rs747635401 0.00004
NM_182961.4(SYNE1):c.26391C>T (p.Leu8797=) rs201891399 0.00004
NM_182961.4(SYNE1):c.26213del (p.Arg8738fs) rs774317818 0.00002
NM_182961.4(SYNE1):c.26278G>A (p.Gly8760Arg) rs758464869 0.00002
NM_182961.4(SYNE1):c.*138A>G rs2051574407 0.00001
NM_182961.4(SYNE1):c.*166G>A rs958754447 0.00001
NM_182961.4(SYNE1):c.*181C>T rs150886628 0.00001
NM_182961.4(SYNE1):c.*368T>C rs927168592 0.00001
NM_182961.4(SYNE1):c.26173G>A (p.Asp8725Asn) rs767663894 0.00001
NM_182961.4(SYNE1):c.26177C>T (p.Ser8726Phe) rs751627369 0.00001
NM_182961.4(SYNE1):c.26213G>A (p.Arg8738His) rs1276774540 0.00001
NM_182961.4(SYNE1):c.26214C>T (p.Arg8738=) rs529628600 0.00001
NM_182961.4(SYNE1):c.26215G>A (p.Gly8739Ser) rs780574537 0.00001
NM_182961.4(SYNE1):c.26237G>A (p.Arg8746Gln) rs757466963 0.00001
NM_182961.4(SYNE1):c.26345G>A (p.Arg8782Gln) rs550697327 0.00001
NM_182961.4(SYNE1):c.26362C>T (p.Leu8788Phe) rs747405346 0.00001
NM_182961.4(SYNE1):c.*295T>C rs886061190
NM_182961.4(SYNE1):c.*449T>A rs886061188
NM_182961.4(SYNE1):c.*449T>C rs886061188
NM_182961.4(SYNE1):c.*515T>C rs886061187
NM_182961.4(SYNE1):c.*580del rs886061186
NM_182961.4(SYNE1):c.*666_*667del rs71660056
NM_182961.4(SYNE1):c.*667del rs71660056
NM_182961.4(SYNE1):c.26154-10C>A rs749838365
NM_182961.4(SYNE1):c.26154-10C>T rs749838365
NM_182961.4(SYNE1):c.26154-16T>A
NM_182961.4(SYNE1):c.26154-9T>C
NM_182961.4(SYNE1):c.26172C>T (p.Ser8724=)
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.26241A>G (p.Ala8747=) rs2152525767
NM_182961.4(SYNE1):c.26266CTC[2] (p.Leu8758del) rs1310428962
NM_182961.4(SYNE1):c.26277C>T (p.Ile8759=)
NM_182961.4(SYNE1):c.26285C>T (p.Ala8762Val) rs983040762
NM_182961.4(SYNE1):c.26308G>A (p.Glu8770Lys)
NM_182961.4(SYNE1):c.26325C>G (p.Ala8775=)
NM_182961.4(SYNE1):c.26352C>A (p.Phe8784Leu) rs2051624339
NM_182961.4(SYNE1):c.26372C>A (p.Thr8791Lys) rs567376316
NM_182961.4(SYNE1):c.26372C>T (p.Thr8791Met) rs567376316
NM_182961.4(SYNE1):c.26375A>G (p.Asn8792Ser) rs754932611
NM_182961.4(SYNE1):c.26376T>C (p.Asn8792=) rs2152524493

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