ClinVar Miner

List of variants studied for disorder of plasmalogens biosynthesis by Elsea Laboratory, Baylor College of Medicine

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001351132.2(PEX5):c.230G>A (p.Arg77His) rs780957318 0.00006
NM_032228.6(FAR1):c.1016A>G (p.Asn339Ser) rs545894851 0.00001
NM_001351132.2(PEX5):c.533G>A (p.Gly178Glu) rs749729761
NM_032228.6(FAR1):c.286G>A (p.Glu96Lys) rs12793516

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