ClinVar Miner

List of variants studied for familial lipoprotein lipase deficiency by Centogene AG - the Rare Disease Company

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000237.3(LPL):c.1139+1G>A rs767260655 0.00001
NM_000237.3(LPL):c.1160_1161insT (p.Lys387fs) rs2070032216
NM_000237.3(LPL):c.784C>T (p.Gln262Ter) rs1297688787
NM_000237.3(LPL):c.987C>A (p.Tyr329Ter) rs118204081

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