ClinVar Miner

Variants in gene MPDZ 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
1519 85 0 31 14 0 3 46

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 6 2 0 0
likely pathogenic 6 0 1 0 0
uncertain significance 2 1 0 14 2
likely benign 0 0 14 0 25
benign 0 0 2 25 0

All variants with conflicting interpretations #

Total variants: 46
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378778.1(MPDZ):c.5723G>A (p.Arg1908Lys) rs34605667 0.03134
NM_001378778.1(MPDZ):c.2518A>G (p.Thr840Ala) rs114565489 0.00849
NM_001378778.1(MPDZ):c.1990T>C (p.Phe664Leu) rs149169783 0.00699
NM_001378778.1(MPDZ):c.325G>T (p.Gly109Cys) rs61753782 0.00684
NM_001378778.1(MPDZ):c.4558-8C>A rs77381767 0.00539
NM_001378778.1(MPDZ):c.6176G>A (p.Arg2059Gln) rs193280665 0.00527
NM_001378778.1(MPDZ):c.3582T>G (p.Ser1194Arg) rs188840960 0.00490
NM_001378778.1(MPDZ):c.2458C>G (p.Leu820Val) rs73647114 0.00482
NM_001378778.1(MPDZ):c.2580A>G (p.Leu860=) rs34704118 0.00406
NM_001378778.1(MPDZ):c.1041G>C (p.Leu347Phe) rs34911705 0.00309
NM_001378778.1(MPDZ):c.4220A>G (p.Tyr1407Cys) rs200891478 0.00290
NM_001378778.1(MPDZ):c.1301C>G (p.Thr434Arg) rs187671655 0.00219
NM_001378778.1(MPDZ):c.1975G>A (p.Val659Ile) rs77838108 0.00211
NM_001378778.1(MPDZ):c.511C>G (p.Gln171Glu) rs181479224 0.00178
NM_001378778.1(MPDZ):c.2520A>G (p.Thr840=) rs41265288 0.00110
NM_001378778.1(MPDZ):c.846A>G (p.Lys282=) rs146224964 0.00109
NM_001378778.1(MPDZ):c.4421A>T (p.Asp1474Val) rs201277979 0.00086
NM_001378778.1(MPDZ):c.5724+8G>A rs148275773 0.00085
NM_001378778.1(MPDZ):c.93C>G (p.Asp31Glu) rs148433683 0.00085
NM_001378778.1(MPDZ):c.4497A>G (p.Glu1499=) rs199737503 0.00076
NM_001378778.1(MPDZ):c.2154+7A>G rs139829341 0.00074
NM_001378778.1(MPDZ):c.3602C>G (p.Thr1201Ser) rs184213204 0.00066
NM_001378778.1(MPDZ):c.6102C>T (p.Gly2034=) rs200049739 0.00064
NM_001378778.1(MPDZ):c.5231+4T>G rs199870788 0.00063
NM_001378778.1(MPDZ):c.2914C>T (p.Pro972Ser) rs186662317 0.00048
NM_001378778.1(MPDZ):c.2537C>G (p.Ser846Cys) rs200553028 0.00044
NM_001378778.1(MPDZ):c.5725-3C>T rs371321660 0.00039
NM_001378778.1(MPDZ):c.2325G>A (p.Pro775=) rs373568505 0.00022
NM_001378778.1(MPDZ):c.1474+10T>G rs142011477 0.00009
NM_001378778.1(MPDZ):c.2429G>C (p.Cys810Ser) rs200535644 0.00009
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser) rs201101621 0.00007
NM_001378778.1(MPDZ):c.2776G>A (p.Ala926Thr) rs144992780 0.00006
NM_001378778.1(MPDZ):c.1197A>G (p.Lys399=) rs767284244 0.00005
NM_001378778.1(MPDZ):c.4003+1G>A rs767038098 0.00002
NM_001378778.1(MPDZ):c.1897C>T (p.Arg633Ter) rs200955619 0.00001
NM_001378778.1(MPDZ):c.2882_2885dup (p.Ser963fs) rs747068627 0.00001
NM_001378778.1(MPDZ):c.4171C>T (p.Arg1391Ter) rs777752091 0.00001
NM_001378778.1(MPDZ):c.534-3T>C rs565080760 0.00001
NM_001378778.1(MPDZ):c.663C>T (p.Ala221=) rs35476999 0.00001
NM_001378778.1(MPDZ):c.75G>C (p.Gly25=) rs535080740 0.00001
NM_001378778.1(MPDZ):c.1087-1G>A rs1463452514
NM_001378778.1(MPDZ):c.3100C>T (p.Arg1034Ter)
NM_001378778.1(MPDZ):c.3896C>G (p.Pro1299Arg) rs187434398
NM_001378778.1(MPDZ):c.4003A>T (p.Lys1335Ter) rs1587149916
NM_001378778.1(MPDZ):c.5278G>A (p.Ala1760Thr) rs1554644827
NM_001378778.1(MPDZ):c.658A>C (p.Ile220Leu) rs61753787

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