ClinVar Miner

List of variants in gene LDLR reported as uncertain significance for not provided

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Total variants: 40
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HGVS dbSNP
NM_000527.4(LDLR):c.1024G>A (p.Asp342Asn) rs139361635
NM_000527.4(LDLR):c.1026C>G (p.Asp342Glu) rs780563386
NM_000527.4(LDLR):c.1066G>A (p.Asp356Asn) rs767767730
NM_000527.4(LDLR):c.1187-14C>T rs1284033782
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.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.1700C>A (p.Thr567Asn) rs1555806098
NM_000527.4(LDLR):c.1765G>A (p.Asp589Asn) rs201971888
NM_000527.4(LDLR):c.1836C>T (p.Ala612=) rs143872778
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.2101G>A (p.Gly701Ser) rs368838866
NM_000527.4(LDLR):c.2106G>A (p.Met702Ile) rs140731590
NM_000527.4(LDLR):c.2273G>C (p.Gly758Ala) rs748540948
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.299A>T (p.Asp100Val) rs879254460
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.632A>T (p.His211Leu) rs879254603
NM_000527.4(LDLR):c.769C>T (p.Arg257Trp) rs200990725
NM_000527.4(LDLR):c.781T>C (p.Cys261Arg) rs1372739823
NM_000527.4(LDLR):c.854A>G (p.His285Arg) rs1555803855
NM_000527.4(LDLR):c.907C>T (p.Arg303Trp) rs151207122
NM_000527.4(LDLR):c.90C>G (p.Asn30Lys) rs72658855
NM_000527.4(LDLR):c.979C>T (p.His327Tyr) rs747507019
NM_001195798.2(LDLR):c.1355G>T (p.Cys452Phe) rs1365474464
NM_001195798.2(LDLR):c.1374_1382del (p.Arg458_Gly461delinsSer)
NM_001195798.2(LDLR):c.2548-5_2548-4del rs1555809910
NM_001195800.2(LDLR):c.314-1906A>G rs373488885

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