ClinVar Miner

List of variants reported as benign for hereditary sensory and autonomic neuropathy type 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_001034850.3(RETREG1):c.816C>T (p.Asp272=) rs162848 0.71313
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) rs9646771 0.70187
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=) rs6432901 0.64588
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673 0.56670
NM_001365536.1(SCN9A):c.2105-14C>T rs6432893 0.56480
NM_001365536.1(SCN9A):c.*2640G>A rs13396526 0.43246
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180 0.38348
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203 0.38341
NM_001034850.3(RETREG1):c.*1012G>A rs26016 0.37107
NM_001034850.3(RETREG1):c.*206A>C rs32147 0.29733
NM_002977.3(SCN9A):c.-307G>T rs1881440 0.24356
NM_001365536.1(SCN9A):c.2105-15G>A rs4525717 0.12980
NM_001365536.1(SCN9A):c.*2854T>C rs73017538 0.11196
NM_001365536.1(SCN9A):c.*1013C>T rs16851754 0.10746
NM_001365536.1(SCN9A):c.*1796C>T rs16851751 0.10742
NM_001034850.3(RETREG1):c.603T>C (p.Cys201=) rs16868675 0.08069
NM_001365536.1(SCN9A):c.*2146G>C rs1062844 0.07204
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218 0.06754
NM_001365536.1(SCN9A):c.*1774G>A rs114843828 0.06654
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) rs149207258 0.06646
NM_001365536.1(SCN9A):c.*2297A>T rs75345520 0.06645
NM_001365536.1(SCN9A):c.688+13T>C rs74449889 0.04864
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607 0.04393
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=) rs58465962 0.04390
NM_001365536.1(SCN9A):c.*129C>T rs16851759 0.03731
NM_001034850.3(RETREG1):c.1145G>C (p.Ser382Thr) rs61733811 0.03341
NM_001034850.3(RETREG1):c.*592G>A rs2401881 0.03326
NM_001365536.1(SCN9A):c.*1492C>G rs73017542 0.03296
NM_001365536.1(SCN9A):c.*2136C>G rs77050817 0.03222
NM_001365536.1(SCN9A):c.*1184T>G rs11902920 0.03035
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly) rs3750904 0.02756
NM_001365536.1(SCN9A):c.3802-8T>C rs76550960 0.02262
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln) rs74401238 0.02210
NM_001365536.1(SCN9A):c.*2540C>T rs58249489 0.01556
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318 0.01339
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
NM_001365536.1(SCN9A):c.*235T>C rs140553451 0.01263
NM_001365536.1(SCN9A):c.*2155G>A rs77565541 0.01260
NM_001365536.1(SCN9A):c.*204G>A rs111510277 0.01227
NM_001365536.1(SCN9A):c.*958C>T rs143727895 0.00990
NM_001034850.3(RETREG1):c.438G>A (p.Leu146=) rs61741225 0.00939
NM_001034850.3(RETREG1):c.379C>T (p.Arg127Cys) rs78314670 0.00642
NM_001365536.1(SCN9A):c.*377C>G rs115464654 0.00575
NM_001365536.1(SCN9A):c.*2323G>T rs142172527 0.00561
NM_001034850.3(RETREG1):c.*235C>A rs144074026 0.00551
NM_001365536.1(SCN9A):c.*2662G>A rs149873320 0.00457
NM_001365536.1(SCN9A):c.-283G>C rs191091185 0.00301
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=) rs77144869 0.00141
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) rs149707354 0.00056
NM_001365536.1(SCN9A):c.4399-14G>T rs112927502 0.00038
NM_001365536.1(SCN9A):c.*18A>G rs150401869 0.00026
NM_001365536.1(SCN9A):c.2165T>C (p.Leu722Ser) rs187526567 0.00009
NM_001365536.1(SCN9A):c.*125C>T rs200465050 0.00004
NM_001365536.1(SCN9A):c.2437A>G (p.Ser813Gly) rs201890240 0.00003
NM_001034850.3(RETREG1):c.*455dup rs140982908
NM_001034850.3(RETREG1):c.*71dup rs200951949
NM_001365536.1(SCN9A):c.*1660G>A rs16851753
NM_001365536.1(SCN9A):c.*2154C>G rs17804037
NM_001365536.1(SCN9A):c.*237C>G rs16851755
NM_001365536.1(SCN9A):c.-290T>C rs148362057
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673

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