ClinVar Miner

List of variants in gene LPL reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000237.3(LPL):c.*9G>A rs4922115 0.14446
NM_000237.3(LPL):c.1421C>G (p.Ser474Ter) rs328 0.08934
NM_000237.3(LPL):c.435G>A (p.Glu145=) rs248 0.05712
NM_000237.3(LPL):c.405G>A (p.Val135=) rs1121923 0.04960
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177 0.01951
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_000237.3(LPL):c.1279G>A (p.Ala427Thr) rs5934 0.00972
NM_000237.3(LPL):c.1135A>G (p.Thr379Ala) rs300 0.00325
NM_000237.3(LPL):c.786G>A (p.Gln262=) rs140986245 0.00066
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00022
NM_000237.3(LPL):c.1325T>G (p.Val442Gly) rs116403115 0.00016
NM_000237.3(LPL):c.662T>C (p.Ile221Thr) rs118204061 0.00004
NM_000237.3(LPL):c.174C>T (p.Pro58=) rs372554872 0.00001
NM_000237.3(LPL):c.701C>T (p.Pro234Leu) rs118204060 0.00001
NM_000237.3(LPL):c.808C>T (p.Arg270Cys) rs118204077 0.00001
NM_000237.3(LPL):c.829G>A (p.Asp277Asn) rs118204068 0.00001
NM_000237.3(LPL):c.834T>C (p.Ser278=) rs1458475052 0.00001
NM_000237.3(LPL):c.213C>T (p.His71=) rs11542065
NM_000237.3(LPL):c.320A>G (p.Asn107Ser) rs1274719866
NM_000237.3(LPL):c.678A>G (p.Pro226=) rs558390128
NM_000237.3(LPL):c.89-1642G>A rs533251194
NM_000237.3(LPL):c.989T>C (p.Leu330Pro)

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