ClinVar Miner

List of variants in gene combination ESR1, SYNE1 reported as likely benign for autosomal recessive ataxia, Beauce type

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.*95C>T rs139397787 0.00066
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.26373G>A (p.Thr8791=) rs370645510 0.00008
NM_182961.4(SYNE1):c.26208C>T (p.Ser8736=) rs770690488 0.00004
NM_182961.4(SYNE1):c.26391C>T (p.Leu8797=) rs201891399 0.00004
NM_182961.4(SYNE1):c.26214C>T (p.Arg8738=) rs529628600 0.00001
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.26241A>G (p.Ala8747=) rs2152525767
NM_182961.4(SYNE1):c.26325C>G (p.Ala8775=)
NM_182961.4(SYNE1):c.26376T>C (p.Asn8792=) rs2152524493

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