ClinVar Miner

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

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Total variants: 12
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NM_018979.4(WNK1):c.1585_1586GA[3] (p.Asp531fs) rs387906332
NM_018979.4(WNK1):c.2140-2493C>T rs111033590
NM_018979.4(WNK1):c.2140-2568C>T rs111033591
NM_018979.4(WNK1):c.2140-3219C>T rs111033592
NM_213655.4(WNK1):c.2920C>T (p.Gln974Ter)
NM_213655.4(WNK1):c.2952del (p.Glu984fs) rs137852734
NM_213655.4(WNK1):c.2999del (p.Arg1000fs) rs387906331
NM_213655.4(WNK1):c.3276dup (p.Ser1093fs) rs137852735
WNK1, 1-BP DEL, 594A
WNK1, 1-BP DEL, 947C
WNK1, 1-BP INS, 1134T
WNK1, 1-BP INS, 918A

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