ClinVar Miner

Variants in gene CRPPA 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
566 32 0 12 22 0 3 36

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 1 2 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 2 1 0 21 2
likely benign 0 0 21 0 11
benign 0 0 2 11 0

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001101426.4(CRPPA):c.726A>G (p.Gln242=) rs61746966 0.02927
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789 0.02478
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) rs114363936 0.00703
NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys) rs61744487 0.00561
NM_001101426.4(CRPPA):c.*86A>G rs16878685 0.00512
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803 0.00164
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys) rs185594460 0.00151
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904 0.00151
NM_001101426.4(CRPPA):c.790-14T>C rs142414812 0.00123
NM_001101426.4(CRPPA):c.790-11C>T rs141363557 0.00101
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=) rs376909665 0.00026
NM_001101426.4(CRPPA):c.531C>T (p.His177=) rs376195897 0.00019
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=) rs371300262 0.00019
NM_001101426.4(CRPPA):c.693C>A (p.Asp231Glu) rs770257307 0.00016
NM_001101426.4(CRPPA):c.123G>C (p.Gly41=) rs761842188 0.00011
NM_001101426.4(CRPPA):c.243A>G (p.Leu81=) rs763209907 0.00011
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln) rs773739293 0.00006
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398 0.00005
NM_001101426.4(CRPPA):c.789+9G>A rs375132134 0.00004
NM_001101426.4(CRPPA):c.1120-10T>C rs200836986 0.00003
NM_001101426.4(CRPPA):c.402A>G (p.Leu134=) rs368815582 0.00002
NM_001101426.4(CRPPA):c.825G>A (p.Ser275=) rs766874330 0.00002
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg) rs186882839 0.00001
NM_001101426.4(CRPPA):c.645A>G (p.Gln215=) rs532057629 0.00001
NM_001101426.4(CRPPA):c.840A>G (p.Arg280=) rs148054819 0.00001
NM_001101426.4(CRPPA):c.933+3A>G rs377582530 0.00001
NM_001101426.4(CRPPA):c.*73TG[5] rs139003391
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del) rs587777798
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter) rs1202301143
NM_001101426.4(CRPPA):c.261A>G (p.Val87=) rs886044356
NM_001101426.4(CRPPA):c.360C>G (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.360C>T (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.395A>G (p.Asn132Ser)
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001101426.4(CRPPA):c.836-19dup rs3839757
NM_001101426.4(CRPPA):c.836-9del rs3839757

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