ClinVar Miner

List of variants in gene LDLR reported as uncertain significance by Integrated Genetics/Laboratory Corporation of America

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Total variants: 49
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HGVS dbSNP
NM_000527.4(LDLR):c.1026C>G (p.Asp342Glu) rs780563386
NM_000527.4(LDLR):c.1061-8T>C rs72658861
NM_000527.4(LDLR):c.1167G>A (p.Thr389=) rs139066906
NM_000527.4(LDLR):c.1186+5G>C rs879254821
NM_000527.4(LDLR):c.1187-14C>T rs1284033782
NM_000527.4(LDLR):c.1230G>A (p.Arg410=) rs879254839
NM_000527.4(LDLR):c.1239G>A (p.Thr413=) rs777011006
NM_000527.4(LDLR):c.1284C>T (p.Asn428=) rs368708058
NM_000527.4(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.4(LDLR):c.1300A>C (p.Thr434Pro) rs1555805237
NM_000527.4(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101
NM_000527.4(LDLR):c.1414G>A (p.Asp472Asn) rs730882102
NM_000527.4(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.4(LDLR):c.1561G>A (p.Ala521Thr) rs879254940
NM_000527.4(LDLR):c.1577C>A (p.Pro526His) rs879254944
NM_000527.4(LDLR):c.1586+5G>A rs781362878
NM_000527.4(LDLR):c.1658_1660del (p.Tyr553del) rs1555806019
NM_000527.4(LDLR):c.1700C>A (p.Thr567Asn) rs1555806098
NM_000527.4(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.4(LDLR):c.1846-10G>T rs368243304
NM_000527.4(LDLR):c.1854A>G (p.Val618=) rs1248760084
NM_000527.4(LDLR):c.1876G>A (p.Glu626Lys) rs139791325
NM_000527.4(LDLR):c.1900C>T (p.Leu634Phe) rs1279368649
NM_000527.4(LDLR):c.1985G>A (p.Arg662Lys) rs1568611349
NM_000527.4(LDLR):c.1987+10G>T rs375846192
NM_000527.4(LDLR):c.2041T>G (p.Cys681Gly) rs879255118
NM_000527.4(LDLR):c.2048C>T (p.Pro683Leu) rs766765648
NM_000527.4(LDLR):c.2075C>G (p.Pro692Arg) rs1568611894
NM_000527.4(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.4(LDLR):c.2140+5G>A rs72658867
NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) rs45508991
NM_000527.4(LDLR):c.2273G>C (p.Gly758Ala) rs748540948
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.2441G>A (p.Arg814Gln) rs5928
NM_000527.4(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.4(LDLR):c.267C>T (p.Cys89=) rs777640882
NM_000527.4(LDLR):c.313C>T (p.Pro105Ser) rs13306510
NM_000527.4(LDLR):c.447T>C (p.Gly149=) rs765386678
NM_000527.4(LDLR):c.451G>C (p.Ala151Pro) rs763233960
NM_000527.4(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.4(LDLR):c.551G>C (p.Cys184Ser) rs121908039
NM_000527.4(LDLR):c.564C>T (p.Tyr188=) rs121908034
NM_000527.4(LDLR):c.631C>T (p.His211Tyr) rs771917370
NM_000527.4(LDLR):c.632A>T (p.His211Leu) rs879254603
NM_000527.4(LDLR):c.781T>C (p.Cys261Arg) rs1372739823
NM_000527.4(LDLR):c.826T>C (p.Cys276Arg) rs879254692
NM_000527.4(LDLR):c.907C>T (p.Arg303Trp) rs151207122
NM_000527.4(LDLR):c.979C>T (p.His327Tyr) rs747507019
NM_001195798.2(LDLR):c.1706-21_1706-19del rs386134242

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