ClinVar Miner

Variants with conflicting interpretations between Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix and U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille

Minimum review status of the submission from Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix: Collection method of the submission from Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any kind of conflict
0 76 0 84 0 0 22 106

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic likely benign
likely pathogenic 81 0 0
uncertain significance 8 1 0
likely benign 7 3 0
benign 2 1 3

All variants with conflicting interpretations #

Total variants: 106
Download table as spreadsheet
HGVS dbSNP
NM_000527.4(LDLR):c.-135C>G rs879254375
NM_000527.4(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.4(LDLR):c.1007A>G (p.Tyr336Cys) rs879254750
NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser) rs730882096
NM_000527.4(LDLR):c.1103G>A (p.Cys368Tyr) rs768430352
NM_000527.4(LDLR):c.1118G>A (p.Gly373Asp) rs879254797
NM_000527.4(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.4(LDLR):c.1187-10G>A rs765696008
NM_000527.4(LDLR):c.1215C>G (p.Asn405Lys) rs879254837
NM_000527.4(LDLR):c.1216C>T (p.Arg406Trp) rs121908043
NM_000527.4(LDLR):c.1217G>A (p.Arg406Gln) rs552422789
NM_000527.4(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.4(LDLR):c.1246C>T (p.Arg416Trp) rs570942190
NM_000527.4(LDLR):c.1285G>A (p.Val429Met) rs28942078
NM_000527.4(LDLR):c.1291G>A (p.Ala431Thr) rs28942079
NM_000527.4(LDLR):c.1301C>G (p.Thr434Arg) rs745343524
NM_000527.4(LDLR):c.1323C>G (p.Ile441Met) rs5933
NM_000527.4(LDLR):c.1328G>C (p.Trp443Ser) rs879254866
NM_000527.4(LDLR):c.1329G>C (p.Trp443Cys) rs879254867
NM_000527.4(LDLR):c.1432G>A (p.Gly478Arg) rs144614838
NM_000527.4(LDLR):c.1463T>A (p.Ile488Asn) rs879254913
NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.1495T>C (p.Ser499Pro) rs879254921
NM_000527.4(LDLR):c.1510A>G (p.Lys504Glu) rs730882103
NM_000527.4(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.4(LDLR):c.1576C>T (p.Pro526Ser) rs730882106
NM_000527.4(LDLR):c.1586+5G>A rs781362878
NM_000527.4(LDLR):c.1618G>A (p.Ala540Thr) rs769370816
NM_000527.4(LDLR):c.1633G>A (p.Gly545Arg) rs879254965
NM_000527.4(LDLR):c.1637G>A (p.Gly546Asp) rs28942081
NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp) rs28941776
NM_000527.4(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.4(LDLR):c.1694G>C (p.Gly565Ala) rs28942082
NM_000527.4(LDLR):c.1706-10G>A rs17248882
NM_000527.4(LDLR):c.1730G>C (p.Trp577Ser) rs138947766
NM_000527.4(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.4(LDLR):c.1774G>A (p.Gly592Arg) rs763147599
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1783C>T (p.Arg595Trp) rs373371572
NM_000527.4(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
NM_000527.4(LDLR):c.1829C>T (p.Ser610Phe) rs879255038
NM_000527.4(LDLR):c.1853T>G (p.Val618Gly) rs1057519677
NM_000527.4(LDLR):c.1856T>C (p.Phe619Ser) rs879255054
NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu) rs28942084
NM_000527.4(LDLR):c.2096C>T (p.Pro699Leu) rs201573863
NM_000527.4(LDLR):c.2167G>T (p.Glu723Ter) rs1057516127
NM_000527.4(LDLR):c.2231G>A (p.Arg744Gln) rs137853963
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.4(LDLR):c.2390-1G>C rs879255193
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.259T>G (p.Trp87Gly) rs121908025
NM_000527.4(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.4(LDLR):c.28T>C (p.Trp10Arg) rs879254386
NM_000527.4(LDLR):c.298G>A (p.Asp100Asn) rs879254459
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.313+2dup rs875989897
NM_000527.4(LDLR):c.326G>T (p.Cys109Phe) rs121908042
NM_000527.4(LDLR):c.343C>T (p.Arg115Cys) rs774723292
NM_000527.4(LDLR):c.361T>C (p.Cys121Arg) rs879254492
NM_000527.4(LDLR):c.377T>C (p.Phe126Ser) rs879254502
NM_000527.4(LDLR):c.383G>A (p.Cys128Tyr) rs879254506
NM_000527.4(LDLR):c.416A>G (p.Asp139Gly) rs879254518
NM_000527.4(LDLR):c.418G>A (p.Glu140Lys) rs748944640
NM_000527.4(LDLR):c.428G>A (p.Cys143Tyr) rs879254522
NM_000527.4(LDLR):c.443G>C (p.Cys148Ser) rs879254526
NM_000527.4(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.4(LDLR):c.478T>C (p.Cys160Arg) rs879254540
NM_000527.4(LDLR):c.501C>G (p.Cys167Trp) rs752596535
NM_000527.4(LDLR):c.519C>A (p.Cys173Ter) rs769318035
NM_000527.4(LDLR):c.523G>A (p.Asp175Asn) rs121908033
NM_000527.4(LDLR):c.530C>T (p.Ser177Leu) rs121908026
NM_000527.4(LDLR):c.539G>A (p.Trp180Ter) rs879254569
NM_000527.4(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.4(LDLR):c.551G>A (p.Cys184Tyr) rs121908039
NM_000527.4(LDLR):c.590G>A (p.Cys197Tyr) rs376459828
NM_000527.4(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.4(LDLR):c.662A>G (p.Asp221Gly) rs373822756
NM_000527.4(LDLR):c.664T>C (p.Cys222Arg) rs577934998
NM_000527.4(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.4(LDLR):c.683A>G (p.Glu228Gly) rs879254642
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.4(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.4(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.4(LDLR):c.769C>T (p.Arg257Trp) rs200990725
NM_000527.4(LDLR):c.796G>A (p.Asp266Asn) rs875989907
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.4(LDLR):c.829G>A (p.Glu277Lys) rs148698650
NM_000527.4(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000527.4(LDLR):c.914G>C (p.Trp305Ser) rs879254717
NM_000527.4(LDLR):c.965A>T (p.Asn322Ile) rs879254742
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000527.4(LDLR):c.985T>G (p.Cys329Gly) rs879254749
NM_001195798.2(LDLR):c.1868_1870TCA[1] (p.Ile624del) rs879255062
NM_001195798.2(LDLR):c.2397_2405del (p.Val800_Leu802del) rs875989944
NM_001195798.2(LDLR):c.2416dup (p.Val806fs) rs773618064
NM_001195798.2(LDLR):c.961_963AAC[1] (p.Asn322del) rs879254741
NM_001195800.2(LDLR):c.314-1832_314-1830del rs121908027

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