ClinVar Miner

Variants in gene combination ABCD1, PLXNB3 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:

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
758 112 0 44 27 0 28 87

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 uncertain significance likely benign benign
pathogenic 0 22 9 0 0
likely pathogenic 22 0 23 2 1
uncertain significance 9 23 0 23 8
likely benign 0 2 23 0 22
benign 0 1 8 22 0

All variants with conflicting interpretations #

Total variants: 87
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913 0.01226
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=) rs140263823 0.00058
NM_000033.4(ABCD1):c.1899C>T (p.Ser633=) rs202125585 0.00041
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile) rs151201945 0.00034
NM_000033.4(ABCD1):c.1581C>T (p.Tyr527=) rs145073701 0.00032
NM_000033.4(ABCD1):c.1117A>G (p.Lys373Glu) rs368606000 0.00024
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=) rs150878397 0.00019
NM_000033.4(ABCD1):c.1748T>C (p.Val583Ala) rs79383557 0.00019
NM_000033.4(ABCD1):c.1215G>A (p.Ser405=) rs138233092 0.00018
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=) rs141110958 0.00016
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp) rs368061976 0.00014
NM_000033.4(ABCD1):c.1780+4G>A rs193922095 0.00014
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln) rs781793261 0.00014
NM_000033.4(ABCD1):c.1521C>T (p.Gly507=) rs373442692 0.00011
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser) rs376472029 0.00010
NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser) rs146525445 0.00008
NM_000033.4(ABCD1):c.1125G>A (p.Glu375=) rs781928741 0.00007
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=) rs199723613 0.00007
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met) rs782157913 0.00006
NM_000033.4(ABCD1):c.1326C>T (p.Asp442=) rs782419455 0.00002
NM_000033.4(ABCD1):c.1327G>A (p.Ala443Thr) rs782647014 0.00002
NM_000033.4(ABCD1):c.1367G>A (p.Arg456His) rs782159028 0.00002
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser) rs782158792 0.00002
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120 0.00002
NM_000033.4(ABCD1):c.1152C>T (p.Ala384=) rs782095899 0.00001
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val) rs1324874967 0.00001
NM_000033.4(ABCD1):c.1245C>T (p.Tyr415=) rs782742220 0.00001
NM_000033.4(ABCD1):c.1260C>A (p.His420Gln) rs782066367 0.00001
NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys) rs1255903649 0.00001
NM_000033.4(ABCD1):c.1299C>T (p.His433=) rs782807937 0.00001
NM_000033.4(ABCD1):c.1369G>C (p.Val457Leu) rs781866876 0.00001
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met) rs1569541035 0.00001
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=) rs782546330 0.00001
NM_000033.4(ABCD1):c.1567C>A (p.Leu523Ile) rs1159943880 0.00001
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879 0.00001
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile) rs76180859 0.00001
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=) rs1557055319 0.00001
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met) rs201427153 0.00001
NM_000033.4(ABCD1):c.1937C>T (p.Ala646Val) rs1258368672 0.00001
NM_000033.4(ABCD1):c.2173G>A (p.Ala725Thr) rs782809184 0.00001
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=) rs782250326
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro) rs1557054173
NM_000033.4(ABCD1):c.1172_1175del (p.Leu391fs) rs2091749146
NM_000033.4(ABCD1):c.1229C>T (p.Thr410Met) rs782373145
NM_000033.4(ABCD1):c.1237G>C (p.Ala413Pro) rs1569541011
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln) rs1046633404
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs) rs193922093
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1394-10_1394-9del rs2148396014
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=) rs141446687
NM_000033.4(ABCD1):c.1463TGG[2] (p.Val490del) rs1603234766
NM_000033.4(ABCD1):c.1477C>G (p.Leu493Val) rs1354388799
NM_000033.4(ABCD1):c.1488+10G>A rs1847185945
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1529G>A (p.Gly510Asp) rs2148397558
NM_000033.4(ABCD1):c.1533C>G (p.Cys511Trp) rs782370364
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro) rs2091762647
NM_000033.4(ABCD1):c.1628C>G (p.Pro543Arg) rs1557054776
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu) rs1603235394
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His) rs2091764510
NM_000033.4(ABCD1):c.1699C>T (p.Gln567Ter) rs201114595
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter) rs2522298866
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp) rs398123106
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln) rs1557054873
NM_000033.4(ABCD1):c.1780G>A (p.Gly594Ser) rs2148398002
NM_000033.4(ABCD1):c.1812C>T (p.Val604=) rs2522302615
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro) rs2148399015
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1820G>A (p.Gly607Asp) rs2091772324
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp) rs78993751
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) rs1557055316
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro) rs2148399201
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.1912G>C (p.Asp638His) rs886044887
NM_000033.4(ABCD1):c.1966T>C (p.Ser656Pro) rs2148399307
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala) rs1603236086
NM_000033.4(ABCD1):c.2106_2122del (p.Leu703fs) rs1557055427
NM_000033.4(ABCD1):c.2135G>A (p.Arg712His) rs1557055447
NM_000033.4(ABCD1):c.2201C>T (p.Pro734Leu) rs368462762

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