ClinVar Miner

List of variants in gene ELOVL4 reported as uncertain significance for autosomal dominant cerebellar ataxia

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys) rs148018494 0.00031
NM_022726.4(ELOVL4):c.163C>G (p.Leu55Val) rs1774342487
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met) rs1554162016

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