List of variants in gene combination ESR1, SYNE1 reported as uncertain significance for Autosomal recessive ataxia, Beauce type

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
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.*101C>T	rs571719631	0.00021
NM_182961.4(SYNE1):c.*186G>A	rs766338162	0.00021
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.*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

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