ClinVar Miner

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

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_213655.5(WNK1):c.3226C>T (p.Arg1076Ter) rs111033591 0.00002
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.640del (p.Met214fs) rs1591543044
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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