ClinVar Miner

List of variants in gene ELOVL4 studied for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_022726.4(ELOVL4):c.215del (p.Pro72fs) rs746047636
NM_022726.4(ELOVL4):c.289-2A>G rs1554162524
NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys) rs148018494
NM_022726.4(ELOVL4):c.646C>T (p.Arg216Ter) rs387906916
NM_022726.4(ELOVL4):c.670-1G>A rs1561982219
NM_022726.4(ELOVL4):c.690del (p.Ile230fs) rs1131690772

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