ClinVar Miner

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

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_018979.4(WNK1):c.6828C>T (p.Tyr2276=) rs4766334 0.98834
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_001365536.1(SCN9A):c.4774+16T>A rs10180721 0.89276
NM_001365536.1(SCN9A):c.3481T>C (p.Trp1161Arg) rs6746030 0.87930
NM_018979.4(WNK1):c.3166A>C (p.Thr1056Pro) rs956868 0.84165
NM_001365536.1(SCN9A):c.596+25C>T rs4429487 0.74453
NM_018979.4(WNK1):c.1287A>G (p.Ala429=) rs10774466 0.71926
NM_001034850.3(RETREG1):c.816C>T (p.Asp272=) rs162848 0.71313
NM_001034850.3(RETREG1):c.1000+20G>T rs162850 0.71290
NM_001365536.1(SCN9A):c.1107+48C>T rs7588632 0.70514
NM_018979.4(WNK1):c.1153+40C>G rs2158502 0.70364
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) rs9646771 0.70187
NM_018979.4(WNK1):c.2328G>A (p.Gln776=) rs1012729 0.69563
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=) rs6432901 0.64588
NM_213655.5(WNK1):c.2268T>C (p.Pro756=) rs7300829 0.63848
NM_018979.4(WNK1):c.759+27G>A rs3858703 0.61933
NM_018979.4(WNK1):c.5509+83A>G rs2255390 0.57410
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673 0.56670
NM_001365536.1(SCN9A):c.2105-14C>T rs6432893 0.56480
NM_213655.5(WNK1):c.2220dup (p.Phe741fs) rs11441897 0.55139
NM_001034850.3(RETREG1):c.873+23T>C rs162849 0.42260
NM_018979.4(WNK1):c.5424G>T (p.Met1808Ile) rs12828016 0.40721
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180 0.38348
NM_018979.4(WNK1):c.5583+36C>T rs2301880 0.24814
NM_001244008.2(KIF1A):c.3641-8C>T rs56024577 0.22160
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 0.09706
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) rs149207258 0.06646
NM_001365536.1(SCN9A):c.4399-10_4399-7del rs77944059
NM_018979.4(WNK1):c.2373+21dup rs5795952

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