ClinVar Miner

Variants with conflicting interpretations studied for Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C

Coded as:
Minimum review status of the submission for Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C: Collection method of the submission for Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
1225 251 0 23 40 0 0 63

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.

All conditions
Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C uncertain significance likely benign benign
uncertain significance 0 16 0
likely benign 34 0 14
benign 0 23 0

Condition to condition summary #

Total conditions: 2
Download table as spreadsheet
Condition 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
Inborn genetic diseases 0 137 0 10 34 0 0 44
Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 1368 147 0 14 10 0 0 24

All variants with conflicting interpretations #

Total variants: 63
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018979.4(WNK1):c.759+15A>C rs11064518 0.05581
NM_018979.4(WNK1):c.2020A>G (p.Thr674Ala) rs11833299 0.00803
NM_018979.4(WNK1):c.3654A>G (p.Ser1218=) rs141971833 0.00316
NM_018979.4(WNK1):c.5281-4G>A rs72650740 0.00269
NM_213655.5(WNK1):c.2172T>C (p.Val724=) rs72649808 0.00266
NM_213655.5(WNK1):c.2270C>T (p.Pro757Leu) rs562247853 0.00263
NM_018979.4(WNK1):c.3489+17A>G rs185323017 0.00213
NM_018979.4(WNK1):c.3582G>A (p.Glu1194=) rs72650721 0.00173
NM_213655.5(WNK1):c.2659T>C (p.Leu887=) rs72649855 0.00167
NM_018979.4(WNK1):c.5284C>T (p.Leu1762=) rs72650741 0.00116
NM_018979.4(WNK1):c.1154-16G>A rs72648630 0.00108
NM_018979.4(WNK1):c.2206A>G (p.Ile736Val) rs147099510 0.00096
NM_018979.4(WNK1):c.1855A>G (p.Thr619Ala) rs149388376 0.00086
NM_018979.4(WNK1):c.7021G>A (p.Gly2341Ser) rs146042595 0.00062
NM_018979.4(WNK1):c.4354A>G (p.Thr1452Ala) rs142543401 0.00061
NM_213655.5(WNK1):c.2360G>A (p.Arg787Gln) rs550716144 0.00061
NM_018979.4(WNK1):c.578C>A (p.Pro193Gln) rs72647372 0.00058
NM_018979.4(WNK1):c.2336C>T (p.Ala779Val) rs141428612 0.00050
NM_213655.5(WNK1):c.2995C>G (p.Leu999Val) rs72649856 0.00046
NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn) rs72650720 0.00045
NM_018979.4(WNK1):c.5050A>G (p.Ile1684Val) rs770568108 0.00039
NM_018979.4(WNK1):c.5741T>C (p.Ile1914Thr) rs184764148 0.00032
NM_018979.4(WNK1):c.5720C>T (p.Pro1907Leu) rs200979623 0.00026
NM_018979.4(WNK1):c.5869C>T (p.Arg1957Cys) rs201766777 0.00026
NM_213655.5(WNK1):c.2939G>T (p.Ser980Ile) rs372091476 0.00026
NM_018979.4(WNK1):c.5496G>A (p.Gln1832=) rs138219481 0.00025
NM_018979.4(WNK1):c.5583+16T>G rs369251741 0.00024
NM_213655.5(WNK1):c.3371G>A (p.Gly1124Glu) rs201042606 0.00024
NM_018979.4(WNK1):c.2290A>G (p.Thr764Ala) rs143890340 0.00022
NM_018979.4(WNK1):c.865T>C (p.Ser289Pro) rs200234585 0.00022
NM_018979.4(WNK1):c.5851A>G (p.Thr1951Ala) rs72650764 0.00020
NM_213655.5(WNK1):c.2772A>G (p.Glu924=) rs371538921 0.00016
NM_018979.4(WNK1):c.1834G>A (p.Gly612Ser) rs146450828 0.00014
NM_018979.4(WNK1):c.4788A>G (p.Gln1596=) rs371448826 0.00012
NM_213655.5(WNK1):c.2533C>T (p.Arg845Cys) rs200794710 0.00011
NM_213655.5(WNK1):c.2605C>A (p.Leu869Ile) rs377073379 0.00011
NM_018979.4(WNK1):c.5714T>A (p.Val1905Glu) rs759895083 0.00009
NM_213655.5(WNK1):c.3107C>T (p.Ala1036Val) rs187534119 0.00009
NM_018979.4(WNK1):c.4130T>A (p.Val1377Glu) rs574069625 0.00008
NM_018979.4(WNK1):c.5001C>T (p.Ser1667=) rs187067527 0.00008
NM_018979.4(WNK1):c.5144A>G (p.Asn1715Ser) rs756614581 0.00006
NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu) rs201995891 0.00006
NM_018979.4(WNK1):c.7138C>T (p.Arg2380Trp) rs56262445 0.00005
NM_018979.4(WNK1):c.2266C>G (p.Gln756Glu) rs768622577 0.00004
NM_018979.4(WNK1):c.4135A>G (p.Thr1379Ala) rs758763241 0.00004
NM_018979.4(WNK1):c.473G>C (p.Ser158Thr) rs920732487 0.00004
NM_018979.4(WNK1):c.5493A>T (p.Thr1831=) rs202024020 0.00004
NM_018979.4(WNK1):c.3935G>A (p.Arg1312His) rs375565845 0.00003
NM_018979.4(WNK1):c.4823C>T (p.Ala1608Val) rs781667314 0.00002
NM_018979.4(WNK1):c.5325C>T (p.Ser1775=) rs373370309 0.00002
NM_213655.5(WNK1):c.2233G>A (p.Ala745Thr) rs763686798 0.00002
NM_018979.4(WNK1):c.131C>T (p.Ala44Val) rs754447060 0.00001
NM_018979.4(WNK1):c.397G>A (p.Val133Ile) rs753342253 0.00001
NM_018979.4(WNK1):c.4270A>G (p.Ile1424Val) rs752331641 0.00001
NM_018979.4(WNK1):c.5312G>T (p.Gly1771Val) rs770566791 0.00001
NM_018979.4(WNK1):c.5442G>A (p.Ala1814=) rs557930357 0.00001
NM_018979.4(WNK1):c.5584-5A>G rs771801197 0.00001
NM_213655.5(WNK1):c.2464A>G (p.Ile822Val) rs751787202 0.00001
NM_018979.4(WNK1):c.1269G>A (p.Ser423=) rs955095527
NM_018979.4(WNK1):c.2119G>A (p.Val707Ile) rs761380468
NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del) rs72650732
NM_018979.4(WNK1):c.5542_5550del (p.Thr1848_Ser1850del) rs544395150
NM_213655.5(WNK1):c.2172dup (p.Pro725fs) rs910119961

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