ClinVar Miner

List of variants reported as benign for Neuropathy, hereditary sensory and autonomic, type 2A by Athena Diagnostics

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Total variants: 12
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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.2328G>A (p.Gln776=) rs1012729 0.69706
NM_018979.4(WNK1):c.5424G>T (p.Met1808Ile) rs12828016 0.40719
NM_018979.4(WNK1):c.3960C>T (p.Asn1320=) rs7300444 0.39881
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.3489+4C>T rs34032084 0.09932
NM_018979.4(WNK1):c.1994C>T (p.Thr665Ile) rs2286007 0.05498

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