ClinVar Miner

List of variants reported as uncertain significance for paroxysmal extreme pain disorder

Included ClinVar conditions (9):
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ClinVar version:
Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 0.00496
NM_001365536.1(SCN9A):c.*124A>G rs201137748 0.00283
NM_001365536.1(SCN9A):c.*2344C>T rs200962814 0.00173
NM_001365536.1(SCN9A):c.-277C>T rs201445594 0.00163
NM_001365536.1(SCN9A):c.*1770A>C rs200353065 0.00115
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) rs71428908 0.00081
NM_001365536.1(SCN9A):c.-126G>C rs200099565 0.00068
NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys) rs200415928 0.00046
NM_001365536.1(SCN9A):c.*159T>C rs201133173 0.00036
NM_001365536.1(SCN9A):c.*2222T>C rs199958892 0.00031
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.*3204G>A rs201300071 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.*1383G>T rs896976419 0.00007
NM_001365536.1(SCN9A):c.3538A>G (p.Asn1180Asp) rs750269576 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.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.*1357C>T rs200338267 0.00004
NM_001365536.1(SCN9A):c.184A>G (p.Ile62Val) rs121908920 0.00004
NM_001365536.1(SCN9A):c.2351C>G (p.Thr784Ser) rs200624920 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.2647G>T (p.Val883Phe) rs369148683 0.00003
NM_001365536.1(SCN9A):c.4503+8_4503+9insT rs767624579 0.00003
NM_001365536.1(SCN9A):c.829C>A (p.Arg277=) rs121908916 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.1650C>G (p.Ser550Arg) rs200192044 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.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.*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.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.3388G>A (p.Val1130Ile) rs765384427 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.4965G>T (p.Met1655Ile) rs200166620 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.*1643T>C rs1693265771
NM_001365536.1(SCN9A):c.*165_*167dup rs886055049
NM_001365536.1(SCN9A):c.*1735C>A rs1693263246
NM_001365536.1(SCN9A):c.*226A>C rs886055048
NM_001365536.1(SCN9A):c.*237C>T rs16851755
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.*491del rs886055047
NM_001365536.1(SCN9A):c.*900T>C rs200829562
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.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+12delinsTT
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.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.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.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.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

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