ClinVar Miner

List of variants studied for paroxysmal extreme pain disorder

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 267
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.4774+16T>A rs10180721 0.89276
NM_001365536.1(SCN9A):c.3481T>C (p.Trp1161Arg) rs6746030 0.87930
NM_001365536.1(SCN9A):c.596+25C>T rs4429487 0.74453
NM_001365536.1(SCN9A):c.1107+48C>T rs7588632 0.70514
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_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.*1118_*1119insCA rs140616949 0.11174
NM_001365536.1(SCN9A):c.*1013C>T rs16851754 0.10746
NM_001365536.1(SCN9A):c.*1796C>T rs16851751 0.10742
NM_001365536.1(SCN9A):c.*771_*772dup rs144515054 0.07233
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.*1605del rs148459420 0.06695
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_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.*3038C>T rs115766730 0.01421
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_001365536.1(SCN9A):c.-294T>C rs141521157 0.00704
NM_001365536.1(SCN9A):c.*377C>G rs115464654 0.00575
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) rs73969684 0.00574
NM_001365536.1(SCN9A):c.*2323G>T rs142172527 0.00561
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 0.00496
NM_001365536.1(SCN9A):c.2517+6C>T rs145316463 0.00460
NM_001365536.1(SCN9A):c.*2662G>A rs149873320 0.00457
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206 0.00386
NM_001365536.1(SCN9A):c.2190G>C (p.Trp730Cys) rs202055175 0.00341
NM_001365536.1(SCN9A):c.*3426A>T rs186838828 0.00334
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) rs111558968 0.00315
NM_001365536.1(SCN9A):c.*2226T>G rs141310425 0.00306
NM_001365536.1(SCN9A):c.-283G>C rs191091185 0.00301
NM_001365536.1(SCN9A):c.*124A>G rs201137748 0.00283
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126 0.00278
NM_001365536.1(SCN9A):c.*2312A>T rs185580193 0.00248
NM_001365536.1(SCN9A):c.*2212T>C rs200750861 0.00201
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919 0.00180
NM_001365536.1(SCN9A):c.*2228G>T rs200790957 0.00177
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748 0.00174
NM_001365536.1(SCN9A):c.*2344C>T rs200962814 0.00173
NM_001365536.1(SCN9A):c.4645T>C (p.Trp1549Arg) rs202084411 0.00173
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294 0.00171
NM_001365536.1(SCN9A):c.-277C>T rs201445594 0.00163
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=) rs77144869 0.00141
NM_001365536.1(SCN9A):c.*1770A>C rs200353065 0.00115
NM_001365536.1(SCN9A):c.*785C>T rs181229506 0.00108
NM_001365536.1(SCN9A):c.*362C>T rs185832567 0.00092
NM_001365536.1(SCN9A):c.*2191G>A rs201184093 0.00091
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) rs71428908 0.00081
NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His) rs188145203 0.00077
NM_001365536.1(SCN9A):c.-126G>C rs200099565 0.00068
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile) rs149346064 0.00061
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=) rs200682458 0.00059
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) rs187453572 0.00059
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) rs149707354 0.00056
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186 0.00056
NM_001365536.1(SCN9A):c.3402G>T (p.Leu1134Phe) rs200160858 0.00052
NM_001365536.1(SCN9A):c.3167A>G (p.Lys1056Arg) rs200560768 0.00048
NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys) rs200415928 0.00046
NM_001365536.1(SCN9A):c.3801T>C (p.Asp1267=) rs202047865 0.00043
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=) rs199550149 0.00041
NM_001365536.1(SCN9A):c.*3317A>G rs191667986 0.00039
NM_001365536.1(SCN9A):c.4399-14G>T rs112927502 0.00038
NM_001365536.1(SCN9A):c.*159T>C rs201133173 0.00036
NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) rs144941725 0.00035
NM_001365536.1(SCN9A):c.*2222T>C rs199958892 0.00031
NM_001365536.1(SCN9A):c.*18A>G rs150401869 0.00026
NM_001365536.1(SCN9A):c.3343A>G (p.Ser1115Gly) rs201984007 0.00025
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=) rs200014315 0.00023
NM_001365536.1(SCN9A):c.129T>C (p.Asp43=) rs200826539 0.00019
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460 0.00019
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=) rs187558439 0.00019
NM_001365536.1(SCN9A):c.3472+14T>C rs201979079 0.00017
NM_001365536.1(SCN9A):c.1110G>A (p.Thr370=) rs202002028 0.00016
NM_001365536.1(SCN9A):c.*1417A>G rs201120940 0.00015
NM_001365536.1(SCN9A):c.*2078C>T rs548072061 0.00014
NM_001365536.1(SCN9A):c.1846G>A (p.Gly616Arg) rs201338643 0.00014
NM_001365536.1(SCN9A):c.*408A>G rs201291538 0.00013
NM_001365536.1(SCN9A):c.4820C>T (p.Thr1607Ile) rs200470541 0.00012
NM_001365536.1(SCN9A):c.*410A>T rs200153085 0.00011
NM_001365536.1(SCN9A):c.2875-5del rs774840081 0.00011
NM_001365536.1(SCN9A):c.2875-6A>G rs760470229 0.00011
NM_001365536.1(SCN9A):c.3482G>A (p.Trp1161Ter) rs759003928 0.00011
NM_001365536.1(SCN9A):c.*3204G>A rs201300071 0.00010
NM_001365536.1(SCN9A):c.965+13T>C rs772337722 0.00010
NM_001365536.1(SCN9A):c.*887T>C rs200611007 0.00009
NM_001365536.1(SCN9A):c.2085A>G (p.Ile695Met) rs199588089 0.00009
NM_001365536.1(SCN9A):c.2165T>C (p.Leu722Ser) rs187526567 0.00009
NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His) rs79805025 0.00009
NM_001365536.1(SCN9A):c.213G>A (p.Val71=) rs200240989 0.00008
NM_001365536.1(SCN9A):c.*1383G>T rs896976419 0.00007
NM_001365536.1(SCN9A):c.3538A>G (p.Asn1180Asp) rs750269576 0.00007
NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr) rs202235611 0.00007
NM_001365536.1(SCN9A):c.*3053G>A rs199656729 0.00006
NM_001365536.1(SCN9A):c.1280T>C (p.Leu427Ser) rs192406412 0.00006
NM_001365536.1(SCN9A):c.2006G>A (p.Arg669His) rs200374987 0.00006
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met) rs41268671 0.00006
NM_001365536.1(SCN9A):c.29A>G (p.Gln10Arg) rs267607030 0.00006
NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=) rs201875421 0.00006
NM_001365536.1(SCN9A):c.561G>A (p.Pro187=) rs200182914 0.00006
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val) rs199822303 0.00006
NM_001365536.1(SCN9A):c.1838C>T (p.Pro613Leu) rs200671761 0.00005
NM_001365536.1(SCN9A):c.2299C>A (p.Pro767Thr) rs199715588 0.00005
NM_001365536.1(SCN9A):c.3125C>T (p.Thr1042Ile) rs757989638 0.00005
NM_001365536.1(SCN9A):c.764G>A (p.Cys255Tyr) rs755139637 0.00005
NM_001365536.1(SCN9A):c.76C>T (p.Arg26Cys) rs199933920 0.00005
NM_001365536.1(SCN9A):c.*125C>T rs200465050 0.00004
NM_001365536.1(SCN9A):c.*1357C>T rs200338267 0.00004
NM_001365536.1(SCN9A):c.-42T>C rs201915876 0.00004
NM_001365536.1(SCN9A):c.1793G>A (p.Arg598His) rs201318927 0.00004
NM_001365536.1(SCN9A):c.184A>G (p.Ile62Val) rs121908920 0.00004
NM_001365536.1(SCN9A):c.1921A>T (p.Asn641Tyr) rs121908918 0.00004
NM_001365536.1(SCN9A):c.2351C>G (p.Thr784Ser) rs200624920 0.00004
NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp) rs202152511 0.00004
NM_001365536.1(SCN9A):c.822A>G (p.Lys274=) rs199784484 0.00004
NM_002977.3(SCN9A):c.-348G>C rs1051254799 0.00004
NM_001365536.1(SCN9A):c.*1605T>C rs199848927 0.00003
NM_001365536.1(SCN9A):c.1604C>T (p.Ser535Leu) rs201354321 0.00003
NM_001365536.1(SCN9A):c.2437A>G (p.Ser813Gly) rs201890240 0.00003
NM_001365536.1(SCN9A):c.2647G>T (p.Val883Phe) rs369148683 0.00003
NM_001365536.1(SCN9A):c.4503+8_4503+9insT rs767624579 0.00003
NM_001365536.1(SCN9A):c.685C>A (p.Pro229Thr) rs755653914 0.00003
NM_001365536.1(SCN9A):c.829C>A (p.Arg277=) rs121908916 0.00003
NM_001365536.1(SCN9A):c.980G>A (p.Gly327Glu) rs765818027 0.00003
NM_001365536.1(SCN9A):c.*2729C>A rs1313840276 0.00002
NM_001365536.1(SCN9A):c.*2744del rs763459885 0.00002
NM_001365536.1(SCN9A):c.*948G>A rs201415802 0.00002
NM_001365536.1(SCN9A):c.1238T>C (p.Ile413Thr) rs200689195 0.00002
NM_001365536.1(SCN9A):c.1619G>A (p.Arg540His) rs199748300 0.00002
NM_001365536.1(SCN9A):c.1650C>G (p.Ser550Arg) rs200192044 0.00002
NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=) rs200185692 0.00002
NM_001365536.1(SCN9A):c.2795T>C (p.Met932Thr) rs778218101 0.00002
NM_001365536.1(SCN9A):c.294C>A (p.Phe98Leu) rs199824489 0.00002
NM_001365536.1(SCN9A):c.5408C>G (p.Ser1803Cys) rs372311962 0.00002
NM_001365536.1(SCN9A):c.553C>T (p.Arg185Cys) rs202083986 0.00002
NM_001365536.1(SCN9A):c.5586G>A (p.Gln1862=) rs199572382 0.00002
NM_001365536.1(SCN9A):c.73C>A (p.Gln25Lys) rs200709311 0.00002
NM_001365536.1(SCN9A):c.*164G>A rs1158330162 0.00001
NM_001365536.1(SCN9A):c.*1815T>C rs202203220 0.00001
NM_001365536.1(SCN9A):c.*217G>A rs200625860 0.00001
NM_001365536.1(SCN9A):c.*2721C>G rs199595958 0.00001
NM_001365536.1(SCN9A):c.*2860C>T rs200963393 0.00001
NM_001365536.1(SCN9A):c.*2986T>G rs201730339 0.00001
NM_001365536.1(SCN9A):c.*3094A>G rs1433503694 0.00001
NM_001365536.1(SCN9A):c.*3202T>C rs1015184575 0.00001
NM_001365536.1(SCN9A):c.*669A>G rs538508619 0.00001
NM_001365536.1(SCN9A):c.*835C>A rs199955941 0.00001
NM_001365536.1(SCN9A):c.-31G>A rs200780217 0.00001
NM_001365536.1(SCN9A):c.1208T>C (p.Met403Thr) rs199986805 0.00001
NM_001365536.1(SCN9A):c.1285C>T (p.Arg429Cys) rs763256222 0.00001
NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=) rs201990547 0.00001
NM_001365536.1(SCN9A):c.1482G>T (p.Lys494Asn) rs777699798 0.00001
NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=) rs200876333 0.00001
NM_001365536.1(SCN9A):c.2348T>C (p.Phe783Ser) rs554539624 0.00001
NM_001365536.1(SCN9A):c.2852T>C (p.Val951Ala) rs201890077 0.00001
NM_001365536.1(SCN9A):c.3368G>A (p.Ser1123Asn) rs141040985 0.00001
NM_001365536.1(SCN9A):c.3388G>A (p.Val1130Ile) rs765384427 0.00001
NM_001365536.1(SCN9A):c.3448G>A (p.Glu1150Lys) rs367794835 0.00001
NM_001365536.1(SCN9A):c.3464T>A (p.Phe1155Tyr) rs750839038 0.00001
NM_001365536.1(SCN9A):c.3476G>A (p.Cys1159Tyr) rs1018959938 0.00001
NM_001365536.1(SCN9A):c.3497G>A (p.Cys1166Tyr) rs370455223 0.00001
NM_001365536.1(SCN9A):c.4128T>C (p.Val1376=) rs1413202256 0.00001
NM_001365536.1(SCN9A):c.4965G>T (p.Met1655Ile) rs200166620 0.00001
NM_001365536.1(SCN9A):c.5245C>T (p.Leu1749=) rs200636760 0.00001
NM_001365536.1(SCN9A):c.5247G>C (p.Leu1749=) rs372210358 0.00001
NM_001365536.1(SCN9A):c.5837C>G (p.Thr1946Arg) rs760097843 0.00001
NM_001365536.1(SCN9A):c.5948G>T (p.Ser1983Ile) rs770802841 0.00001
NM_001365536.1(SCN9A):c.*1014G>A rs200393413
NM_001365536.1(SCN9A):c.*1422T>C rs1693272137
NM_001365536.1(SCN9A):c.*1434dup rs199505193
NM_001365536.1(SCN9A):c.*1605_*1606del rs200091138
NM_001365536.1(SCN9A):c.*1643T>C rs1693265771
NM_001365536.1(SCN9A):c.*165_*167dup rs886055049
NM_001365536.1(SCN9A):c.*1660G>A rs16851753
NM_001365536.1(SCN9A):c.*1735C>A rs1693263246
NM_001365536.1(SCN9A):c.*1960_*1962dup rs202073550
NM_001365536.1(SCN9A):c.*2154C>G rs17804037
NM_001365536.1(SCN9A):c.*226A>C rs886055048
NM_001365536.1(SCN9A):c.*237C>G rs16851755
NM_001365536.1(SCN9A):c.*237C>T rs16851755
NM_001365536.1(SCN9A):c.*244_*247dup rs143461219
NM_001365536.1(SCN9A):c.*2616_*2626del rs145255931
NM_001365536.1(SCN9A):c.*2677T>C rs1472041217
NM_001365536.1(SCN9A):c.*2928G>A rs199559478
NM_001365536.1(SCN9A):c.*2945C>A rs1693226507
NM_001365536.1(SCN9A):c.*3102C>T rs182687583
NM_001365536.1(SCN9A):c.*3282A>C rs139483482
NM_001365536.1(SCN9A):c.*416dup rs3834910
NM_001365536.1(SCN9A):c.*491del rs886055047
NM_001365536.1(SCN9A):c.*529_*530del rs140024416
NM_001365536.1(SCN9A):c.*798dup rs564394161
NM_001365536.1(SCN9A):c.*900T>C rs200829562
NM_001365536.1(SCN9A):c.*920T>A rs201424899
NM_001365536.1(SCN9A):c.-290T>C rs148362057
NM_001365536.1(SCN9A):c.-92G>T rs569406301
NM_001365536.1(SCN9A):c.1014T>G (p.Asp338Glu) rs886055056
NM_001365536.1(SCN9A):c.1094A>G (p.Asn365Ser) rs886055055
NM_001365536.1(SCN9A):c.1139T>A (p.Ile380Asn) rs188798505
NM_001365536.1(SCN9A):c.1207A>C (p.Met403Leu) rs746956041
NM_001365536.1(SCN9A):c.1603-14dup rs200430382
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.1975-3del rs35888674
NM_001365536.1(SCN9A):c.1975-3dup rs35888674
NM_001365536.1(SCN9A):c.1998G>C (p.Lys666Asn) rs369989247
NM_001365536.1(SCN9A):c.2239G>C (p.Asp747His) rs1486841808
NM_001365536.1(SCN9A):c.2240A>T (p.Asp747Val) rs201744417
NM_001365536.1(SCN9A):c.238C>T (p.Pro80Ser) rs768587771
NM_001365536.1(SCN9A):c.274A>T (p.Asn92Tyr) rs747265095
NM_001365536.1(SCN9A):c.2874+11_2874+13del
NM_001365536.1(SCN9A):c.2874+12delinsTT
NM_001365536.1(SCN9A):c.2874+13del rs200434162
NM_001365536.1(SCN9A):c.2916T>C (p.Ser972=) rs886055054
NM_001365536.1(SCN9A):c.3019C>T (p.Arg1007Cys) rs121908910
NM_001365536.1(SCN9A):c.3265G>A (p.Val1089Met) rs886055053
NM_001365536.1(SCN9A):c.3272T>C (p.Ile1091Thr) rs774490843
NM_001365536.1(SCN9A):c.3332A>C (p.Asp1111Ala) rs753287730
NM_001365536.1(SCN9A):c.3332A>G (p.Asp1111Gly) rs753287730
NM_001365536.1(SCN9A):c.3613A>G (p.Ser1205Gly)
NM_001365536.1(SCN9A):c.3754A>G (p.Thr1252Ala) rs886055052
NM_001365536.1(SCN9A):c.37G>A (p.Val13Ile) rs779738791
NM_001365536.1(SCN9A):c.3925-13T>C rs886055051
NM_001365536.1(SCN9A):c.3925G>T (p.Val1309Phe) rs121908912
NM_001365536.1(SCN9A):c.3926T>A (p.Val1309Asp) rs121908911
NM_001365536.1(SCN9A):c.3928G>T (p.Val1310Phe) rs121908913
NM_001365536.1(SCN9A):c.4099C>T (p.Arg1367Cys) rs866428752
NM_001365536.1(SCN9A):c.4143A>G (p.Arg1381=) rs200610689
NM_001365536.1(SCN9A):c.4368C>G (p.Ile1456Met) rs1362318488
NM_001365536.1(SCN9A):c.4399-10_4399-7del rs77944059
NM_001365536.1(SCN9A):c.4415T>A (p.Ile1472Asn) rs121908914
NM_001365536.1(SCN9A):c.4415T>C (p.Ile1472Thr) rs121908914
NM_001365536.1(SCN9A):c.4417T>G (p.Phe1473Val) rs1553474394
NM_001365536.1(SCN9A):c.4424C>T (p.Thr1475Ile) rs121908915
NM_001365536.1(SCN9A):c.4434GAA[1] (p.Lys1480del) rs886055050
NM_001365536.1(SCN9A):c.4441T>C (p.Tyr1481His) rs1693696549
NM_001365536.1(SCN9A):c.4482A>G (p.Gln1494=) rs1558945594
NM_001365536.1(SCN9A):c.4778T>C (p.Met1593Thr) rs754401649
NM_001365536.1(SCN9A):c.4868T>C (p.Leu1623Pro) rs1131691776
NM_001365536.1(SCN9A):c.4928C>A (p.Ala1643Glu) rs879253994
NM_001365536.1(SCN9A):c.5543G>A (p.Arg1848His) rs199705100
NM_001365536.1(SCN9A):c.5820C>G (p.Asn1940Lys) rs371454107
NM_002977.3(SCN9A):c.-324C>A rs201905758
NM_002977.3(SCN9A):c.-324C>T rs201905758
NM_002977.3(SCN9A):c.-339G>C rs886055057
NM_005896.4(IDH1):c.890G>T (p.Cys297Phe) rs2124849065

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