ClinVar Miner

List of variants studied for Neuropathy, hereditary sensory and autonomic, type 2A by Genome-Nilou Lab

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Total variants: 18
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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.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.421G>A (p.Ala141Thr) rs11554421 0.09867
NM_018979.4(WNK1):c.2373+21dup rs5795952

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