ClinVar Miner

List of variants in gene WNK1 studied for Neuropathy, hereditary sensory and autonomic, type 2A

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Total variants: 61
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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.1153+40C>G rs2158502 0.70364
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_018979.4(WNK1):c.759+27G>A rs3858703 0.61933
NM_018979.4(WNK1):c.5509+83A>G rs2255390 0.57410
NM_213655.5(WNK1):c.2220dup (p.Phe741fs) rs11441897 0.55139
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.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_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.1994C>T (p.Thr665Ile) rs2286007 0.05498
NM_213655.5(WNK1):c.2362C>T (p.Arg788Cys) rs72649848 0.00170
NM_213655.5(WNK1):c.2605C>A (p.Leu869Ile) rs377073379 0.00011
NM_018979.4(WNK1):c.5144A>G (p.Asn1715Ser) rs756614581 0.00005
NM_018979.4(WNK1):c.5068C>G (p.Pro1690Ala) rs771546256 0.00003
NM_213655.5(WNK1):c.3633+1G>T rs762015494 0.00003
NM_213655.5(WNK1):c.3226C>T (p.Arg1076Ter) rs111033591 0.00002
NM_213655.5(WNK1):c.3451T>C (p.Ser1151Pro) rs759112199 0.00002
NM_018979.4(WNK1):c.4739C>T (p.Pro1580Leu) rs1298761421 0.00001
NM_213655.5(WNK1):c.2575C>T (p.Gln859Ter) rs111033592 0.00001
NM_213655.5(WNK1):c.2908C>T (p.Gln970Ter) rs767247980 0.00001
NM_213655.5(WNK1):c.2920C>T (p.Gln974Ter) rs1478989689 0.00001
NM_213655.5(WNK1):c.3301C>T (p.Gln1101Ter) rs111033590 0.00001
NM_213655.5(WNK1):c.3492dup (p.Asp1165Ter) rs1951913764 0.00001
NM_018979.4(WNK1):c.1591_1592del (p.Asp531fs) rs387906332
NM_018979.4(WNK1):c.166C>G (p.Arg56Gly) rs1174073920
NM_018979.4(WNK1):c.2187G>A (p.Gly729=) rs759764709
NM_018979.4(WNK1):c.2267A>C (p.Gln756Pro) rs776731718
NM_018979.4(WNK1):c.2373+21dup rs5795952
NM_018979.4(WNK1):c.3530T>G (p.Phe1177Cys) rs1953359993
NM_018979.4(WNK1):c.5422A>G (p.Met1808Val)
NM_018979.4(WNK1):c.5572G>A (p.Gly1858Arg) rs1395162926
NM_018979.4(WNK1):c.640del (p.Met214fs) rs1591543044
NM_213655.5(WNK1):c.2229dup (p.Thr744fs) rs1307515994
NM_213655.5(WNK1):c.2418_2419del (p.Cys806fs) rs1951812826
NM_213655.5(WNK1):c.2612del (p.Pro871fs) rs1951832349
NM_213655.5(WNK1):c.2870C>G (p.Ser957Ter) rs1951856480
NM_213655.5(WNK1):c.2898_2899del (p.Gln966fs) rs1951859185
NM_213655.5(WNK1):c.2952del (p.Glu984fs) rs137852734
NM_213655.5(WNK1):c.2999del (p.Arg1000fs) rs387906331
NM_213655.5(WNK1):c.3002T>G (p.Leu1001Ter) rs1951868262
NM_213655.5(WNK1):c.3076A>T (p.Lys1026Ter) rs1951875500
NM_213655.5(WNK1):c.3276dup (p.Ser1093fs) rs137852735
NM_213655.5(WNK1):c.3305del (p.Pro1102fs) rs1951897077
NM_213655.5(WNK1):c.3330C>A (p.Tyr1110Ter) rs1951900495
NM_213655.5(WNK1):c.3422_3423del (p.Ile1141fs) rs560235090
NM_213655.5(WNK1):c.3447dup (p.Gln1150fs) rs755667636
NM_213655.5(WNK1):c.3464dup (p.Gly1156fs) rs1951910839
NM_213655.5(WNK1):c.3526_3529del (p.Thr1176fs) rs1951917368
NM_213655.5(WNK1):c.3550_3554del (p.Phe1184fs) rs1951919337
NM_213655.5(WNK1):c.3577_3584del (p.Ser1193fs) rs1951922314
WNK1, 1-BP INS, 1134T

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