ClinVar Miner

List of variants in gene LDLR reported by Mendelics

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000527.5(LDLR):c.2072C>T (p.Ser691Leu) rs369943481 0.00004
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858 0.00004
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr) rs764493597 0.00003
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser) rs750474121 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val) rs755667663 0.00001
NM_000527.5(LDLR):c.1608G>C (p.Trp536Cys) rs2077458389 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000527.5(LDLR):c.106G>T (p.Asp36Tyr) rs2147210262
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.5(LDLR):c.1790C>A (p.Thr597Asn) rs1184797111
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1982C>T (p.Pro661Leu)
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2560A>G (p.Ser854Gly)
NM_000527.5(LDLR):c.52G>C (p.Ala18Pro) rs1172805138
NM_000527.5(LDLR):c.621C>A (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.644G>T (p.Arg215Leu) rs753319170
NM_000527.5(LDLR):c.695-3C>T rs745897889
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter) rs146651743
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.932_933del (p.Lys311fs) rs879254723
NM_000527.5(LDLR):c.940+4A>T rs768247312
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)

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