ClinVar Miner

List of variants in gene WNK1 reported as pathogenic by Invitae

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_213655.5(WNK1):c.2398C>T (p.Gln800Ter) rs879254311 0.00006
NM_213655.5(WNK1):c.3226C>T (p.Arg1076Ter) rs111033591 0.00002
NM_213655.5(WNK1):c.2920C>T (p.Gln974Ter) rs1478989689 0.00001
NM_018979.4(WNK1):c.2266C>T (p.Gln756Ter)
NM_018979.4(WNK1):c.2275_2282dup (p.Gln761fs) rs1592141343
NM_018979.4(WNK1):c.2321_2322dup (p.Ser775Ter) rs1952807311
NM_018979.4(WNK1):c.3331C>T (p.Arg1111Ter) rs1051081383
NM_018979.4(WNK1):c.3962_3963del (p.Thr1321fs)
NM_018979.4(WNK1):c.5267dup (p.Thr1757fs)
NM_018979.4(WNK1):c.5270_5273del (p.Thr1757fs)
NM_213655.5(WNK1):c.2436C>A (p.Tyr812Ter) rs2154071377
NM_213655.5(WNK1):c.2446_2449del (p.Gln816fs)
NM_213655.5(WNK1):c.2462_2463dup (p.Ile822fs) rs2154071399
NM_213655.5(WNK1):c.2636G>A (p.Trp879Ter) rs1592095957
NM_213655.5(WNK1):c.2722G>T (p.Glu908Ter) rs1592096494
NM_213655.5(WNK1):c.2739_2740del (p.Tyr913_Ser914delinsTer)
NM_213655.5(WNK1):c.2952del (p.Glu984fs) rs137852734
NM_213655.5(WNK1):c.2998del (p.Arg1000fs)
NM_213655.5(WNK1):c.3086_3087del (p.Pro1029fs)
NM_213655.5(WNK1):c.3088_3091del (p.Val1030fs) rs2154071927
NM_213655.5(WNK1):c.3096del (p.Pro1033fs) rs2154071932
NM_213655.5(WNK1):c.3209T>A (p.Leu1070Ter)
NM_213655.5(WNK1):c.3276dup (p.Ser1093fs) rs137852735
NM_213655.5(WNK1):c.3373C>T (p.Gln1125Ter) rs2154072180
NM_213655.5(WNK1):c.3402T>G (p.Tyr1134Ter) rs1951905881
NM_213655.5(WNK1):c.3438del (p.Ser1147fs)
NM_213655.5(WNK1):c.3526_3529del (p.Thr1176fs) rs1951917368
NM_213655.5(WNK1):c.3535C>T (p.Gln1179Ter) rs1951918264

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