ClinVar Miner

List of variants in gene LPL reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NC_000008.11:g.19939200G>C rs540525285 0.00103
NM_000237.3(LPL):c.1325T>G (p.Val442Gly) rs116403115 0.00016
NM_000237.3(LPL):c.112G>A (p.Glu38Lys) rs557015233 0.00003
NM_000237.3(LPL):c.190G>A (p.Val64Met) rs114101772 0.00003
NM_000237.3(LPL):c.43C>A (p.Leu15Ile) rs781367198 0.00003
NM_000237.3(LPL):c.885A>C (p.Glu295Asp) rs1041560952 0.00002
NM_000237.3(LPL):c.1051G>A (p.Gly351Arg) rs772132247 0.00001
NM_000237.3(LPL):c.1158T>G (p.Asn386Lys) rs1051237995 0.00001
NM_000237.3(LPL):c.622G>A (p.Val208Ile) rs568397156 0.00001
NM_000237.3(LPL):c.958G>T (p.Val320Phe) rs767970819 0.00001
NM_000237.3(LPL):c.975C>G (p.Ser325Arg) rs761265900 0.00001
NM_000237.3(LPL):c.-3G>T rs763635553
NM_000237.3(LPL):c.1136C>G (p.Thr379Ser) rs76708715
NM_000237.3(LPL):c.1234G>C (p.Asp412His) rs541991367
NM_000237.3(LPL):c.1426T>C (p.Ter476Arg) rs2540112703
NM_000237.3(LPL):c.272G>C (p.Trp91Ser) rs118204070
NM_000237.3(LPL):c.274G>A (p.Val92Met)
NM_000237.3(LPL):c.329TGG[1] (p.Val111del) rs1419129012
NM_000237.3(LPL):c.686A>G (p.His229Arg) rs1287351470

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