ClinVar Miner

List of variants reported as uncertain significance for Neuropathy, hereditary sensory and autonomic, type 2A

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 0.00496
NM_213655.5(WNK1):c.2362C>T (p.Arg788Cys) rs72649848 0.00170
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) rs71428908 0.00078
NM_213655.5(WNK1):c.2605C>A (p.Leu869Ile) rs377073379 0.00011
NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu) rs200817435 0.00009
NM_001365536.1(SCN9A):c.2129G>A (p.Cys710Tyr) rs201709980 0.00007
NM_018979.4(WNK1):c.5144A>G (p.Asn1715Ser) rs756614581 0.00005
NM_001244008.2(KIF1A):c.5105G>A (p.Arg1702His) rs369839651 0.00003
NM_018979.4(WNK1):c.5068C>G (p.Pro1690Ala) rs771546256 0.00003
NM_213655.5(WNK1):c.3451T>C (p.Ser1151Pro) rs759112199 0.00002
NM_001244008.2(KIF1A):c.3064-13C>T rs779347174 0.00001
NM_001244008.2(KIF1A):c.3640+12C>T rs1403885809 0.00001
NM_001244008.2(KIF1A):c.3670C>T (p.Arg1224Trp) rs368577433 0.00001
NM_018979.4(WNK1):c.4739C>T (p.Pro1580Leu) rs1298761421 0.00001
NM_001244008.2(KIF1A):c.393C>A (p.Asn131Lys) rs35139906
NM_001244008.2(KIF1A):c.4537C>G (p.Leu1513Val) rs2045537723
NM_001244008.2(KIF1A):c.527C>T (p.Pro176Leu) rs2054754659
NM_001365536.1(SCN9A):c.2299C>T (p.Pro767Ser) rs199715588
NM_001365536.1(SCN9A):c.4243G>A (p.Ala1415Thr) rs1694897566
NM_001365536.1(SCN9A):c.5588T>C (p.Met1863Thr) rs201561928
NM_018979.4(WNK1):c.166C>G (p.Arg56Gly) rs1174073920
NM_018979.4(WNK1):c.2187G>A (p.Gly729=) rs759764709
NM_018979.4(WNK1):c.2267A>C (p.Gln756Pro) rs776731718
NM_018979.4(WNK1):c.3530T>G (p.Phe1177Cys) rs1953359993
NM_018979.4(WNK1):c.5422A>G (p.Met1808Val)
NM_018979.4(WNK1):c.5572G>A (p.Gly1858Arg) rs1395162926

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