ClinVar Miner

List of variants in gene combination SCN1A, SCN9A reported as benign for Paroxysmal extreme pain disorder

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 106
Download table as spreadsheet
HGVS dbSNP
NM_001365536.1(SCN9A):c.*1013C>T rs16851754
NM_001365536.1(SCN9A):c.*1118_*1119insCA rs140616949
NM_001365536.1(SCN9A):c.*1184T>G rs11902920
NM_001365536.1(SCN9A):c.*125C>T rs200465050
NM_001365536.1(SCN9A):c.*129C>T rs16851759
NM_001365536.1(SCN9A):c.*1492C>G rs73017542
NM_001365536.1(SCN9A):c.*1605del rs148459420
NM_001365536.1(SCN9A):c.*1660G>A rs16851753
NM_001365536.1(SCN9A):c.*1774G>A rs114843828
NM_001365536.1(SCN9A):c.*1796C>T rs16851751
NM_001365536.1(SCN9A):c.*18A>G rs150401869
NM_001365536.1(SCN9A):c.*204G>A rs111510277
NM_001365536.1(SCN9A):c.*2136C>G rs77050817
NM_001365536.1(SCN9A):c.*2146G>C rs1062844
NM_001365536.1(SCN9A):c.*2154C>G rs17804037
NM_001365536.1(SCN9A):c.*2155G>A rs77565541
NM_001365536.1(SCN9A):c.*217G>A rs200625860
NM_001365536.1(SCN9A):c.*2191G>A rs201184093
NM_001365536.1(SCN9A):c.*2212T>C rs200750861
NM_001365536.1(SCN9A):c.*2226T>G rs141310425
NM_001365536.1(SCN9A):c.*2228G>T rs200790957
NM_001365536.1(SCN9A):c.*2297A>T rs75345520
NM_001365536.1(SCN9A):c.*2312A>T rs185580193
NM_001365536.1(SCN9A):c.*2323G>T rs142172527
NM_001365536.1(SCN9A):c.*235T>C rs140553451
NM_001365536.1(SCN9A):c.*237C>G rs16851755
NM_001365536.1(SCN9A):c.*244_*247dup rs143461219
NM_001365536.1(SCN9A):c.*2540C>T rs58249489
NM_001365536.1(SCN9A):c.*2616_*2626del rs145255931
NM_001365536.1(SCN9A):c.*2640G>A rs13396526
NM_001365536.1(SCN9A):c.*2662G>A rs149873320
NM_001365536.1(SCN9A):c.*2721C>G rs199595958
NM_001365536.1(SCN9A):c.*2854T>C rs73017538
NM_001365536.1(SCN9A):c.*3038C>T rs115766730
NM_001365536.1(SCN9A):c.*3317A>G rs191667986
NM_001365536.1(SCN9A):c.*3426A>T rs186838828
NM_001365536.1(SCN9A):c.*362C>T
NM_001365536.1(SCN9A):c.*377C>G rs115464654
NM_001365536.1(SCN9A):c.*416dup rs3834910
NM_001365536.1(SCN9A):c.*529_*530del rs140024416
NM_001365536.1(SCN9A):c.*771_*772dup rs144515054
NM_001365536.1(SCN9A):c.*785C>T rs181229506
NM_001365536.1(SCN9A):c.*798dup rs564394161
NM_001365536.1(SCN9A):c.*920T>A rs201424899
NM_001365536.1(SCN9A):c.*958C>T rs143727895
NM_001365536.1(SCN9A):c.1110G>A (p.Thr370=) rs202002028
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=) rs58465962
NM_001365536.1(SCN9A):c.1208T>C (p.Met403Thr) rs199986805
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180
NM_001365536.1(SCN9A):c.1285C>T (p.Arg429Cys) rs763256222
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673
NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=) rs201990547
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=) rs200682458
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607
NM_001365536.1(SCN9A):c.1619G>A (p.Arg540His) rs199748300
NM_001365536.1(SCN9A):c.1793G>A (p.Arg598His) rs201318927
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.1838C>T (p.Pro613Leu) rs200671761
NM_001365536.1(SCN9A):c.1975-12dup rs35888674
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=) rs200014315
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919
NM_001365536.1(SCN9A):c.2105-14C>T rs6432893
NM_001365536.1(SCN9A):c.2105-15G>A rs4525717
NM_001365536.1(SCN9A):c.2165T>C (p.Leu722Ser) rs187526567
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) rs149707354
NM_001365536.1(SCN9A):c.2437A>G (p.Ser813Gly) rs201890240
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met) rs41268671
NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=) rs200185692
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318
NM_001365536.1(SCN9A):c.2852T>C (p.Val951Ala) rs201890077
NM_001365536.1(SCN9A):c.2874+13del rs200434162
NM_001365536.1(SCN9A):c.2875-6A>G rs760470229
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876
NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His) rs188145203
NM_001365536.1(SCN9A):c.3167A>G (p.Lys1056Arg) rs200560768
NM_001365536.1(SCN9A):c.3343A>G (p.Ser1115Gly) rs201984007
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln) rs74401238
NM_001365536.1(SCN9A):c.3368G>A (p.Ser1123Asn) rs141040985
NM_001365536.1(SCN9A):c.3402G>T (p.Leu1134Phe) rs200160858
NM_001365536.1(SCN9A):c.3472+14T>C rs201979079
NM_001365536.1(SCN9A):c.3482G>A (p.Trp1161Ter) rs759003928
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=) rs77144869
NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) rs144941725
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327
NM_001365536.1(SCN9A):c.3801T>C (p.Asp1267=) rs202047865
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218
NM_001365536.1(SCN9A):c.3802-8T>C rs76550960
NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr) rs202235611
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile) rs149346064
NM_001365536.1(SCN9A):c.4399-10_4399-7del rs77944059
NM_001365536.1(SCN9A):c.4399-14G>T rs112927502
NM_001365536.1(SCN9A):c.4645T>C (p.Trp1549Arg) rs202084411
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) rs149207258
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=) rs199550149
NM_001365536.1(SCN9A):c.5247G>C (p.Leu1749=)
NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=) rs201875421
NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His) rs79805025
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly) rs3750904
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) rs111558968
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val) rs199822303
NM_001365536.1(SCN9A):c.965+13T>C rs772337722
NM_001365536.1(SCN9A):c.980G>A (p.Gly327Glu)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.