ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
Download table as spreadsheet
HGVS dbSNP
NM_001365536.1(SCN9A):c.*1014G>A rs200393413
NM_001365536.1(SCN9A):c.*124A>G rs201137748
NM_001365536.1(SCN9A):c.*1357C>T rs200338267
NM_001365536.1(SCN9A):c.*1383G>T
NM_001365536.1(SCN9A):c.*1417A>G
NM_001365536.1(SCN9A):c.*1422T>C
NM_001365536.1(SCN9A):c.*159T>C
NM_001365536.1(SCN9A):c.*1605T>C rs199848927
NM_001365536.1(SCN9A):c.*1643T>C
NM_001365536.1(SCN9A):c.*164G>A
NM_001365536.1(SCN9A):c.*165_*167dup rs886055049
NM_001365536.1(SCN9A):c.*1735C>A
NM_001365536.1(SCN9A):c.*1770A>C rs200353065
NM_001365536.1(SCN9A):c.*1815T>C
NM_001365536.1(SCN9A):c.*2078C>T rs548072061
NM_001365536.1(SCN9A):c.*2222T>C rs199958892
NM_001365536.1(SCN9A):c.*226A>C rs886055048
NM_001365536.1(SCN9A):c.*2344C>T rs200962814
NM_001365536.1(SCN9A):c.*237C>T
NM_001365536.1(SCN9A):c.*2677T>C
NM_001365536.1(SCN9A):c.*2729C>A
NM_001365536.1(SCN9A):c.*2744del rs763459885
NM_001365536.1(SCN9A):c.*2860C>T rs200963393
NM_001365536.1(SCN9A):c.*2928G>A rs199559478
NM_001365536.1(SCN9A):c.*2945C>A
NM_001365536.1(SCN9A):c.*2986T>G rs201730339
NM_001365536.1(SCN9A):c.*3053G>A
NM_001365536.1(SCN9A):c.*3094A>G
NM_001365536.1(SCN9A):c.*3102C>T rs182687583
NM_001365536.1(SCN9A):c.*3202T>C
NM_001365536.1(SCN9A):c.*3204G>A
NM_001365536.1(SCN9A):c.*3282A>C rs139483482
NM_001365536.1(SCN9A):c.*408A>G
NM_001365536.1(SCN9A):c.*410A>T
NM_001365536.1(SCN9A):c.*491del rs886055047
NM_001365536.1(SCN9A):c.*669A>G rs538508619
NM_001365536.1(SCN9A):c.*835C>A
NM_001365536.1(SCN9A):c.*887T>C
NM_001365536.1(SCN9A):c.*900T>C
NM_001365536.1(SCN9A):c.*948G>A rs201415802
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.1482G>T (p.Lys494Asn) rs777699798
NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=) rs200876333
NM_001365536.1(SCN9A):c.1998G>C (p.Lys666Asn) rs369989247
NM_001365536.1(SCN9A):c.2239G>C (p.Asp747His)
NM_001365536.1(SCN9A):c.2240A>T (p.Asp747Val)
NM_001365536.1(SCN9A):c.2916T>C (p.Ser972=) rs886055054
NM_001365536.1(SCN9A):c.3125C>T (p.Thr1042Ile) rs757989638
NM_001365536.1(SCN9A):c.3265G>A (p.Val1089Met) rs886055053
NM_001365536.1(SCN9A):c.3272T>C (p.Ile1091Thr)
NM_001365536.1(SCN9A):c.3388G>A (p.Val1130Ile) rs765384427
NM_001365536.1(SCN9A):c.3464T>A (p.Phe1155Tyr) rs750839038
NM_001365536.1(SCN9A):c.3476G>A (p.Cys1159Tyr)
NM_001365536.1(SCN9A):c.3497G>A (p.Cys1166Tyr) rs370455223
NM_001365536.1(SCN9A):c.3754A>G (p.Thr1252Ala) rs886055052
NM_001365536.1(SCN9A):c.3925-13T>C rs886055051
NM_001365536.1(SCN9A):c.4099C>T (p.Arg1367Cys)
NM_001365536.1(SCN9A):c.4143A>G (p.Arg1381=) rs200610689
NM_001365536.1(SCN9A):c.4434GAA[1] (p.Lys1480del) rs886055050
NM_001365536.1(SCN9A):c.4441T>C (p.Tyr1481His)
NM_001365536.1(SCN9A):c.4503+8_4503+9insT rs767624579
NM_001365536.1(SCN9A):c.5543G>A (p.Arg1848His)

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.