ClinVar Miner

List of variants studied for familial lipoprotein lipase deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000237.3(LPL):c.998G>A (p.Arg333His) rs144466625 0.00024
NM_000237.3(LPL):c.292G>A (p.Ala98Thr) rs145657341 0.00006
NM_000237.3(LPL):c.835C>G (p.Leu279Val) rs371282890 0.00006
NM_000237.3(LPL):c.547G>A (p.Asp183Asn) rs781614031 0.00002
NM_000237.3(LPL):c.755T>C (p.Ile252Thr) rs118204080 0.00002
NM_000237.3(LPL):c.809G>A (p.Arg270His) rs118204062 0.00001
NM_000237.3(LPL):c.802C>T (p.His268Tyr)
NM_000237.3(LPL):c.818A>G (p.His273Arg)

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