ClinVar Miner

List of variants in gene WNK1 reported as benign for Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_018979.4(WNK1):c.6828C>T (p.Tyr2276=) rs4766334 0.98898
NM_018979.4(WNK1):c.4517G>C (p.Cys1506Ser) rs7955371 0.98791
NM_018979.4(WNK1):c.258T>C (p.Cys86=) rs3168640 0.97485
NM_018979.4(WNK1):c.3166A>C (p.Thr1056Pro) rs956868 0.84133
NM_018979.4(WNK1):c.1287A>G (p.Ala429=) rs10774466 0.71926
NM_018979.4(WNK1):c.2328G>A (p.Gln776=) rs1012729 0.69706
NM_213655.5(WNK1):c.2268T>C (p.Pro756=) rs7300829 0.63713
NM_213655.5(WNK1):c.2220dup (p.Phe741fs) rs11441897 0.55139
NM_018979.4(WNK1):c.2374-181C>T rs880054 0.54634
NM_018979.4(WNK1):c.5424G>T (p.Met1808Ile) rs12828016 0.40719
NM_018979.4(WNK1):c.3960C>T (p.Asn1320=) rs7300444 0.39881
NM_018979.4(WNK1):c.5583+36C>T rs2301880 0.24814
NM_018979.4(WNK1):c.2529G>A (p.Gln843=) rs9804992 0.14500
NM_018979.4(WNK1):c.1401-11C>A rs11064573 0.12417
NM_018979.4(WNK1):c.1479T>C (p.Asp493=) rs2286006 0.12413
NM_018979.4(WNK1):c.4044C>T (p.Thr1348=) rs10849577 0.12407
NM_213655.5(WNK1):c.2190G>C (p.Leu730Phe) rs11611231 0.12208
NM_018979.4(WNK1):c.3489+4C>T rs34032084 0.09932
NM_018979.4(WNK1):c.421G>A (p.Ala141Thr) rs11554421 0.09867
NM_018979.4(WNK1):c.759+16_759+18dup rs398088143 0.08796
NM_018979.4(WNK1):c.759+15A>C rs11064518 0.05581
NM_018979.4(WNK1):c.1994C>T (p.Thr665Ile) rs2286007 0.05498
NM_018979.4(WNK1):c.3490-5T>A rs72650719 0.01759
NM_018979.4(WNK1):c.1526T>C (p.Ile509Thr) rs34728563 0.01649
NM_018979.4(WNK1):c.1512A>G (p.Leu504=) rs56325964 0.01534
NM_018979.4(WNK1):c.2081T>C (p.Ile694Thr) rs61736905 0.01527
NM_213655.5(WNK1):c.2314T>C (p.Leu772=) rs193095412 0.01026
NM_018979.4(WNK1):c.5397A>G (p.Gln1799=) rs148639270 0.00974
NM_018979.4(WNK1):c.5468C>T (p.Pro1823Leu) rs17755373 0.00870
NM_018979.4(WNK1):c.5991G>A (p.Glu1997=) rs61736907 0.00815
NM_018979.4(WNK1):c.2020A>G (p.Thr674Ala) rs11833299 0.00751
NM_018979.4(WNK1):c.684C>T (p.Gly228=) rs72647374 0.00748
NM_018979.4(WNK1):c.5481A>G (p.Thr1827=) rs61736908 0.00679
NM_213655.5(WNK1):c.2155A>G (p.Ser719Gly) rs72649807 0.00451
NM_018979.4(WNK1):c.2052A>G (p.Ala684=) rs72648690 0.00413
NM_018979.4(WNK1):c.3654A>G (p.Ser1218=) rs141971833 0.00395
NM_018979.4(WNK1):c.5583+3A>G rs72650758 0.00270
NM_018979.4(WNK1):c.5281-4G>A rs72650740 0.00269
NM_213655.5(WNK1):c.2270C>T (p.Pro757Leu) rs562247853 0.00263
NM_213655.5(WNK1):c.2172T>C (p.Val724=) rs72649808 0.00249
NM_018979.4(WNK1):c.2490G>A (p.Pro830=) rs79816263 0.00211
NM_018979.4(WNK1):c.3489+17A>G rs185323017 0.00200
NM_018979.4(WNK1):c.3582G>A (p.Glu1194=) rs72650721 0.00154
NM_213655.5(WNK1):c.2659T>C (p.Leu887=) rs72649855 0.00152
NM_018979.4(WNK1):c.1154-16G>A rs72648630 0.00108
NM_018979.4(WNK1):c.5284C>T (p.Leu1762=) rs72650741 0.00105
NM_018979.4(WNK1):c.6643+18A>G rs72650769 0.00103
NM_018979.4(WNK1):c.2206A>G (p.Ile736Val) rs147099510 0.00096
NM_018979.4(WNK1):c.446C>T (p.Ala149Val) rs34880640 0.00091
NM_018979.4(WNK1):c.4983T>C (p.Ser1661=) rs149852592 0.00072
NM_018979.4(WNK1):c.4354A>G (p.Thr1452Ala) rs142543401 0.00061
NM_018979.4(WNK1):c.2336C>T (p.Ala779Val) rs141428612 0.00050
NM_018979.4(WNK1):c.5496G>A (p.Gln1832=) rs138219481 0.00025
NM_018979.4(WNK1):c.5583+16T>G rs369251741 0.00025
NM_018979.4(WNK1):c.2290A>G (p.Thr764Ala) rs143890340 0.00022
NM_018979.4(WNK1):c.5833C>T (p.Arg1945Cys) rs117016551 0.00021
NM_213655.5(WNK1):c.2772A>G (p.Glu924=) rs371538921 0.00016
NM_018979.4(WNK1):c.5001C>T (p.Ser1667=) rs187067527 0.00011
NM_018979.4(WNK1):c.5493A>T (p.Thr1831=) rs202024020 0.00005
NM_018979.4(WNK1):c.4270A>G (p.Ile1424Val) rs752331641 0.00001
NM_018979.4(WNK1):c.6891G>A (p.Ser2297=) rs201600155 0.00001
NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del) rs72650732
NM_018979.4(WNK1):c.5542_5550del (p.Thr1848_Ser1850del) rs544395150
NM_018979.4(WNK1):c.5572G>A (p.Gly1858Arg) rs1395162926
NM_213655.5(WNK1):c.2175dup (p.Ile726fs) rs35706572

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