ClinVar Miner

List of variants in gene LDLR studied for not specified

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Gene type:
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Total variants: 72
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HGVS dbSNP
NM_000527.4(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.4(LDLR):c.1024G>A (p.Asp342Asn) rs139361635
NM_000527.4(LDLR):c.1024G>T (p.Asp342Tyr) rs139361635
NM_000527.4(LDLR):c.1056C>T (p.Cys352=) rs13306515
NM_000527.4(LDLR):c.1060+10G>C rs12710260
NM_000527.4(LDLR):c.1060+18C>A rs780579614
NM_000527.4(LDLR):c.1060+7= rs2738442
NM_000527.4(LDLR):c.1061-8T>C rs72658861
NM_000527.4(LDLR):c.1167G>A (p.Thr389=) rs139066906
NM_000527.4(LDLR):c.1171G>A (p.Ala391Thr) rs11669576
NM_000527.4(LDLR):c.1186+5G>C rs879254821
NM_000527.4(LDLR):c.1217G>A (p.Arg406Gln) rs552422789
NM_000527.4(LDLR):c.1230G>A (p.Arg410=) rs879254839
NM_000527.4(LDLR):c.1323C>T (p.Ile441=) rs5933
NM_000527.4(LDLR):c.1413A>G (p.Arg471=) rs5930
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.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.1576C>T (p.Pro526Ser) rs730882106
NM_000527.4(LDLR):c.1586+16G>T rs114891301
NM_000527.4(LDLR):c.1617C>T (p.Pro539=) rs5929
NM_000527.4(LDLR):c.1658_1660del (p.Tyr553del) rs1555806019
NM_000527.4(LDLR):c.1706-10G>A rs17248882
NM_000527.4(LDLR):c.1725C>T (p.Leu575=) rs1799898
NM_000527.4(LDLR):c.1773C>T (p.Asn591=) rs688
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.185C>T (p.Thr62Met) rs376207800
NM_000527.4(LDLR):c.1867A>G (p.Ile623Val) rs555292896
NM_000527.4(LDLR):c.1875C>T (p.Asn625=) rs137853962
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.1920C>T (p.Asn640=) rs5926
NM_000527.4(LDLR):c.1959T>C (p.Val653=) rs5925
NM_000527.4(LDLR):c.1977C>A (p.Thr659=) rs72658866
NM_000527.4(LDLR):c.1985G>A (p.Arg662Lys) rs1568611349
NM_000527.4(LDLR):c.2075C>G (p.Pro692Arg) rs1568611894
NM_000527.4(LDLR):c.2098G>A (p.Asp700Asn) rs375009082
NM_000527.4(LDLR):c.2140+5G>A rs72658867
NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) rs45508991
NM_000527.4(LDLR):c.2231_2232delinsAG (p.Arg744Gln) rs1555808091
NM_000527.4(LDLR):c.2232A>G (p.Arg744=) rs5927
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.2388C>T (p.Ile796=) rs543852919
NM_000527.4(LDLR):c.2506G>A (p.Val836Ile) rs879255220
NM_000527.4(LDLR):c.2548-19G>A rs146008484
NM_000527.4(LDLR):c.313C>T (p.Pro105Ser) rs13306510
NM_000527.4(LDLR):c.324G>T (p.Thr108=) rs146517429
NM_000527.4(LDLR):c.330C>G (p.Ser110=) rs768109825
NM_000527.4(LDLR):c.352G>T (p.Asp118Tyr) rs730882080
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.507C>T (p.Asn169=) rs146354103
NM_000527.4(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.4(LDLR):c.631C>T (p.His211Tyr) rs771917370
NM_000527.4(LDLR):c.638G>C (p.Ser213Thr) rs879254604
NM_000527.4(LDLR):c.67+18C>A rs17242759
NM_000527.4(LDLR):c.694+25C>T rs199540175
NM_000527.4(LDLR):c.694+9G>A rs34093283
NM_000527.4(LDLR):c.81C>T (p.Cys27=) rs2228671
NM_000527.4(LDLR):c.826T>C (p.Cys276Arg) rs879254692
NM_000527.4(LDLR):c.829G>A (p.Glu277Lys) rs148698650
NM_000527.4(LDLR):c.907C>T (p.Arg303Trp) rs151207122
NM_000527.4(LDLR):c.90C>T (p.Asn30=) rs72658855
NM_000527.4(LDLR):c.941-39C>T rs55792959
NM_000527.4(LDLR):c.941-4G>A rs116405216
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_001195798.2(LDLR):c.148G>A (p.Ala50Thr) rs137853960
NM_001195798.2(LDLR):c.2225C>T (p.Thr742Ile) rs767546791
NM_001195798.2(LDLR):c.940G>A (p.Gly314Arg) rs72658858
NM_001195800.2(LDLR):c.314-2116C>T rs879254498

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