ClinVar Miner

List of variants in gene ELOVL4 studied for autosomal dominant cerebellar ataxia

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_022726.4(ELOVL4):c.895A>G (p.Met299Val) rs3812153 0.15428
NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln) rs148919174 0.00936
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.504G>C (p.Leu168Phe) rs587777598
NM_022726.4(ELOVL4):c.512T>C (p.Ile171Thr) rs1554162301
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met) rs1554162016
NM_022726.4(ELOVL4):c.736T>G (p.Trp246Gly) rs1131692036

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