ClinVar Miner

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

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Total variants: 35
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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.1167G>A (p.Thr389=) rs139066906
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.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.1658_1660del (p.Tyr553del) rs1555806019
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.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.2075C>G (p.Pro692Arg) rs1568611894
NM_000527.4(LDLR):c.2098G>A (p.Asp700Asn) rs375009082
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.2506G>A (p.Val836Ile) rs879255220
NM_000527.4(LDLR):c.313C>T (p.Pro105Ser) rs13306510
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.631C>T (p.His211Tyr) rs771917370
NM_000527.4(LDLR):c.638G>C (p.Ser213Thr) rs879254604
NM_000527.4(LDLR):c.826T>C (p.Cys276Arg) rs879254692
NM_000527.4(LDLR):c.907C>T (p.Arg303Trp) rs151207122
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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