ClinVar Miner

Variants in gene combination GATAD1, PEX1 with conflicting interpretations

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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:
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 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
421 54 0 26 26 0 4 50

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 18 3 0 0
likely pathogenic 18 0 3 0 0
uncertain significance 3 3 0 25 5
likely benign 0 0 25 0 8
benign 0 0 5 8 0

All variants with conflicting interpretations #

Total variants: 50
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.3439-14_3439-13del rs150005994 0.02536
NM_000466.3(PEX1):c.2901G>A (p.Gln967=) rs111704518 0.00792
NM_000466.3(PEX1):c.3720C>T (p.His1240=) rs34825053 0.00582
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg) rs139054881 0.00188
NM_000466.3(PEX1):c.3426C>T (p.Thr1142=) rs143220470 0.00124
NM_000466.3(PEX1):c.3371A>G (p.Asn1124Ser) rs147870525 0.00089
NM_000466.3(PEX1):c.2926+8T>C rs369877998 0.00084
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) rs140963147 0.00069
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610 0.00065
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021 0.00055
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598 0.00036
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly) rs182452430 0.00032
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala) rs185181696 0.00029
NM_000466.3(PEX1):c.2868T>A (p.Val956=) rs200663477 0.00024
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser) rs754130942 0.00021
NM_000466.3(PEX1):c.3250A>G (p.Met1084Val) rs781277635 0.00014
NM_000466.3(PEX1):c.3637-14T>C rs745612436 0.00009
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp) rs374167385 0.00006
NM_000466.3(PEX1):c.2927-12T>A rs375062546 0.00005
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427 0.00005
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) rs61750425 0.00004
NM_000466.3(PEX1):c.3165A>G (p.Gln1055=) rs776231556 0.00003
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=) rs1009877821 0.00002
NM_000466.3(PEX1):c.2784-7T>C rs777893142 0.00001
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp) rs866184460 0.00001
NM_000466.3(PEX1):c.2859dup (p.Thr954fs) rs1057517472 0.00001
NM_000466.3(PEX1):c.2926+2T>C rs267608180 0.00001
NM_000466.3(PEX1):c.2927-8T>C rs778618662 0.00001
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655 0.00001
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=) rs768417678 0.00001
NM_000466.3(PEX1):c.3208-1G>A rs1057517518 0.00001
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs) rs886043558 0.00001
NM_000466.3(PEX1):c.3543A>G (p.Ser1181=) rs374673391 0.00001
NM_000466.3(PEX1):c.3633T>C (p.Ser1211=) rs753334806 0.00001
NM_000466.3(PEX1):c.3642C>T (p.Asp1214=) rs777384403 0.00001
NM_000466.3(PEX1):c.2798dup (p.Pro934fs) rs1057517484
NM_000466.3(PEX1):c.2852dup (p.His951fs) rs767877383
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) rs1057517481
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_000466.3(PEX1):c.2922del (p.Leu974fs) rs762324548
NM_000466.3(PEX1):c.2941G>A (p.Ala981Thr) rs566068815
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter) rs61750428
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro) rs954814470
NM_000466.3(PEX1):c.3108A>G (p.Ala1036=) rs1030151030
NM_000466.3(PEX1):c.3115del (p.Thr1039fs) rs1562846257
NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer) rs1585214453
NM_000466.3(PEX1):c.3455_3456del (p.Ser1152fs) rs759183382
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter) rs1057517467
NM_000466.3(PEX1):c.3627C>T (p.Ser1209=) rs886062501
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs) rs769836601

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