ClinVar Miner

Variants with conflicting interpretations studied for LRP2-related disorder

Minimum review status of the submission for LRP2-related disorder: Collection method of the submission for LRP2-related disorder:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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 per condition Variants with at least 2 submissions on the same condition 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 conflict
14 80 0 39 40 0 1 70

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.

All conditions
LRP2-related disorder pathogenic likely pathogenic uncertain significance likely benign benign
likely pathogenic 3 0 0 0 0
uncertain significance 0 1 0 7 0
likely benign 0 0 29 0 18
benign 0 0 4 18 0

Condition to condition summary #

Total conditions: 3
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
not provided 0 83 0 38 35 0 0 67
not specified 0 6 0 4 7 0 0 11
DSD incomplete virilization 0 0 0 2 0 0 1 3

All variants with conflicting interpretations #

Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_004525.3(LRP2):c.428-8T>A rs761869255 0.05647
NM_004525.3(LRP2):c.428-9T>A rs1162568534 0.02580
NM_004525.3(LRP2):c.8892G>A (p.Arg2964=) rs149148763 0.00557
NM_004525.3(LRP2):c.9613A>G (p.Asn3205Asp) rs35734447 0.00421
NM_004525.3(LRP2):c.7917A>C (p.Gly2639=) rs144126440 0.00414
NM_004525.3(LRP2):c.2933C>T (p.Thr978Met) rs114842875 0.00322
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His) rs142549310 0.00281
NM_004525.3(LRP2):c.1973A>G (p.Tyr658Cys) rs111360923 0.00248
NM_004525.3(LRP2):c.-5C>T rs373286009 0.00241
NM_004525.3(LRP2):c.12379C>A (p.Arg4127Ser) rs148356370 0.00217
NM_004525.3(LRP2):c.1346T>A (p.Phe449Tyr) rs139167787 0.00211
NM_004525.3(LRP2):c.12380G>A (p.Arg4127His) rs142934522 0.00196
NM_004525.3(LRP2):c.13685T>C (p.Val4562Ala) rs142245618 0.00192
NM_004525.3(LRP2):c.10030G>A (p.Ala3344Thr) rs137983840 0.00185
NM_004525.3(LRP2):c.3122A>G (p.Asn1041Ser) rs143028579 0.00170
NM_004525.3(LRP2):c.4351G>T (p.Val1451Phe) rs146289506 0.00164
NM_004525.3(LRP2):c.6473A>C (p.Asn2158Thr) rs34052957 0.00157
NM_004525.3(LRP2):c.12725A>G (p.Asp4242Gly) rs35942532 0.00156
NM_004525.3(LRP2):c.9477G>A (p.Met3159Ile) rs144322413 0.00152
NM_004525.3(LRP2):c.6954C>T (p.Asp2318=) rs34223099 0.00148
NM_004525.3(LRP2):c.13935C>T (p.Thr4645=) rs150373759 0.00144
NM_004525.3(LRP2):c.7406A>G (p.Asp2469Gly) rs116507519 0.00143
NM_004525.3(LRP2):c.2178G>T (p.Leu726Phe) rs144451000 0.00139
NM_004525.3(LRP2):c.13902C>G (p.Thr4634=) rs112043518 0.00132
NM_004525.3(LRP2):c.5209C>T (p.Leu1737Phe) rs149469954 0.00126
NM_004525.3(LRP2):c.13921A>T (p.Thr4641Ser) rs79179577 0.00123
NM_004525.3(LRP2):c.3110G>A (p.Arg1037Lys) rs147058423 0.00123
NM_004525.3(LRP2):c.3100A>G (p.Lys1034Glu) rs150395163 0.00120
NM_004525.3(LRP2):c.391A>G (p.Arg131Gly) rs34592807 0.00119
NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser) rs150752263 0.00100
NM_004525.3(LRP2):c.6858T>A (p.Phe2286Leu) rs140918583 0.00089
NM_004525.3(LRP2):c.6176C>T (p.Ser2059Phe) rs148299415 0.00088
NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val) rs140272085 0.00087
NM_004525.3(LRP2):c.9650A>G (p.Tyr3217Cys) rs143150497 0.00083
NM_004525.3(LRP2):c.299G>A (p.Arg100His) rs35642533 0.00075
NM_004525.3(LRP2):c.1176C>T (p.Gly392=) rs369145798 0.00070
NM_004525.3(LRP2):c.6938C>T (p.Pro2313Leu) rs73035708 0.00069
NM_004525.3(LRP2):c.6256A>T (p.Thr2086Ser) rs146149181 0.00067
NM_004525.3(LRP2):c.7747G>A (p.Val2583Met) rs145201961 0.00063
NM_004525.3(LRP2):c.9234C>T (p.His3078=) rs116975392 0.00059
NM_004525.3(LRP2):c.1189A>G (p.Ile397Val) rs140575982 0.00049
NM_004525.3(LRP2):c.13610A>C (p.Gln4537Pro) rs188918037 0.00049
NM_004525.3(LRP2):c.3128A>G (p.Tyr1043Cys) rs201299366 0.00043
NM_004525.3(LRP2):c.6553C>T (p.Leu2185Phe) rs143884041 0.00043
NM_004525.3(LRP2):c.11288A>T (p.Glu3763Val) rs200475391 0.00036
NM_004525.3(LRP2):c.8177G>C (p.Gly2726Ala) rs144594832 0.00034
NM_004525.3(LRP2):c.8505T>C (p.Cys2835=) rs140925226 0.00027
NM_004525.3(LRP2):c.2321-3T>C rs529050791 0.00023
NM_004525.3(LRP2):c.39C>T (p.Leu13=) rs529649802 0.00021
NM_004525.3(LRP2):c.6130G>A (p.Ala2044Thr) rs142266106 0.00020
NM_004525.3(LRP2):c.8514C>T (p.Arg2838=) rs145154135 0.00017
NM_004525.3(LRP2):c.12296-7T>A rs200755164 0.00013
NM_004525.3(LRP2):c.10536C>T (p.Cys3512=) rs531013104 0.00011
NM_004525.3(LRP2):c.10906C>T (p.Arg3636Trp) rs747833963 0.00009
NM_004525.3(LRP2):c.6106G>A (p.Val2036Ile) rs34041086 0.00009
NM_004525.3(LRP2):c.7284T>G (p.Ser2428Arg) rs373362950 0.00009
NM_004525.3(LRP2):c.7586A>G (p.His2529Arg) rs139696516 0.00009
NM_004525.3(LRP2):c.11244C>T (p.Asn3748=) rs542010522 0.00007
NM_004525.3(LRP2):c.1425C>T (p.Asp475=) rs186484839 0.00007
NM_004525.3(LRP2):c.8300G>A (p.Gly2767Asp) rs138382534 0.00006
NM_004525.3(LRP2):c.5367G>A (p.Glu1789=) rs528249827 0.00005
NM_004525.3(LRP2):c.9128G>A (p.Arg3043His) rs143078432 0.00003
NM_004525.3(LRP2):c.10660C>T (p.Arg3554Ter) rs768458485 0.00001
NM_004525.3(LRP2):c.1773-3C>T rs752242118 0.00001
NM_004525.3(LRP2):c.2599A>G (p.Thr867Ala) rs143822500 0.00001
NM_004525.3(LRP2):c.3573A>G (p.Gln1191=) rs750430784 0.00001
NM_004525.3(LRP2):c.5867T>G (p.Leu1956Arg) rs756470766 0.00001
NM_004525.3(LRP2):c.6283C>T (p.Arg2095Ter) rs753549113 0.00001
NM_004525.3(LRP2):c.9706C>T (p.Arg3236Ter) rs1310470715 0.00001
NM_004525.3(LRP2):c.13680G>T (p.Glu4560Asp) rs192849943

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