ClinVar Miner

List of variants in gene WNK1 reported as pathogenic for Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C

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Total variants: 6
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HGVS dbSNP
NM_018979.4(WNK1):c.2140-2518dup rs137852735
NM_018979.4(WNK1):c.2140-2568C>T rs111033591
NM_018979.4(WNK1):c.2275_2282dup (p.Gln761fs)
NM_018979.4(WNK1):c.3331C>T (p.Arg1111Ter)
NM_213655.4(WNK1):c.2172dup (p.Pro725fs)
NM_213655.4(WNK1):c.2636G>A (p.Trp879Ter)

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