ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Fundacion Hipercolesterolemia Familiar and "pathogenic" from U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille

Minimum review status of the submission from Fundacion Hipercolesterolemia Familiar: Collection method of the submission from Fundacion Hipercolesterolemia Familiar:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 30
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly) rs767618089 0.00001
NM_000527.4(LDLR):c.-135C>G
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1301C>G (p.Thr434Arg) rs745343524
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.1965C>G (p.Phe655Leu) rs879255090
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.5(LDLR):c.2475C>A (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.313+2dup rs875989897
NM_000527.5(LDLR):c.361T>C (p.Cys121Arg) rs879254492
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.428G>C (p.Cys143Ser) rs879254522
NM_000527.5(LDLR):c.442T>C (p.Cys148Arg) rs879254525
NM_000527.5(LDLR):c.533A>G (p.Asp178Gly) rs875989902
NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr) rs879254600
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)

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