ClinVar Miner

Variants in gene ENPP1 with conflicting interpretations

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
612 35 0 21 18 2 3 37

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 risk factor
pathogenic 0 3 2 0 0 0
likely pathogenic 3 0 1 0 0 0
uncertain significance 2 1 0 13 11 0
likely benign 0 0 13 0 18 0
benign 0 0 11 18 0 2
risk factor 0 0 0 0 2 0

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) rs1044498 0.32168
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys) rs28933977 0.02826
NM_006208.3(ENPP1):c.-10C>T rs750410843 0.02463
NM_006208.3(ENPP1):c.-13G>A rs535293574 0.01629
NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val) rs79079368 0.01455
NM_006208.3(ENPP1):c.2106T>C (p.Ser702=) rs7750837 0.01366
NM_006208.3(ENPP1):c.618-20T>G rs143637835 0.00689
NM_006208.3(ENPP1):c.313+10del rs778260177 0.00389
NM_006208.3(ENPP1):c.2124C>A (p.Phe708Leu) rs140521704 0.00260
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=) rs73541508 0.00178
NM_006208.3(ENPP1):c.2101-10del rs200562612 0.00116
NM_006208.3(ENPP1):c.1056T>G (p.Ala352=) rs150279426 0.00115
NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe) rs140729669 0.00086
NM_006208.3(ENPP1):c.522C>T (p.Gly174=) rs144882196 0.00080
NM_006208.3(ENPP1):c.2336C>A (p.Thr779Asn) rs200239821 0.00021
NM_006208.3(ENPP1):c.1540T>C (p.Leu514=) rs536023117 0.00007
NM_006208.3(ENPP1):c.2088C>T (p.Thr696=) rs142835743 0.00006
NM_006208.3(ENPP1):c.2462G>A (p.Arg821His) rs367759638 0.00004
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) rs373044722 0.00001
NM_006208.3(ENPP1):c.1652A>G (p.Tyr551Cys) rs753071702 0.00001
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg) rs777367269 0.00001
NM_006208.3(ENPP1):c.1791T>C (p.Asn597=) rs548504035 0.00001
NM_006208.3(ENPP1):c.749C>T (p.Pro250Leu) rs754659608 0.00001
NM_006208.3(ENPP1):c.1025G>T (p.Gly342Val) rs121918025
NM_006208.3(ENPP1):c.2101-11del rs397832689
NM_006208.3(ENPP1):c.2236A>C (p.Asn746His) rs144099489
NM_006208.3(ENPP1):c.27C>G (p.Gly9=) rs794726927
NM_006208.3(ENPP1):c.313+8_313+9dup rs377330284
NM_006208.3(ENPP1):c.313+8_313+9insTT rs879243445
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGT rs879243445
NM_006208.3(ENPP1):c.313+9GT[16] rs59956343
NM_006208.3(ENPP1):c.313+9GT[17] rs59956343
NM_006208.3(ENPP1):c.313+9GT[20] rs59956343
NM_006208.3(ENPP1):c.313+9GT[21] rs59956343
NM_006208.3(ENPP1):c.313+9GT[22] rs59956343
NM_006208.3(ENPP1):c.313+9del rs377330284
NM_006208.3(ENPP1):c.523G>A (p.Asp175Asn)

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