ClinVar Miner

List of variants in gene SCN9A reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) rs71428908 0.00081
NM_001365536.1(SCN9A):c.49A>G (p.Lys17Glu) rs181981693 0.00012
NM_001365536.1(SCN9A):c.328T>C (p.Ser110Pro) rs201503351 0.00009
NM_001365536.1(SCN9A):c.587T>C (p.Ile196Thr) rs200878465 0.00006
NM_001365536.1(SCN9A):c.641G>A (p.Arg214Gln) rs201741634 0.00006
NM_001365536.1(SCN9A):c.205G>A (p.Gly69Ser) rs201243874 0.00005
NM_001365536.1(SCN9A):c.390G>T (p.Met130Ile) rs376036522 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.184A>G (p.Ile62Val) rs121908920 0.00004
NM_001365536.1(SCN9A):c.302A>G (p.Asn101Ser) rs752395219 0.00004
NM_001365536.1(SCN9A):c.118A>G (p.Lys40Glu) rs371565974 0.00003
NM_001365536.1(SCN9A):c.294C>A (p.Phe98Leu) rs199824489 0.00002
NM_001365536.1(SCN9A):c.58C>T (p.Leu20Phe) rs200056934 0.00002
NM_001365536.1(SCN9A):c.265A>G (p.Ile89Val) rs201577842 0.00001
NM_001365536.1(SCN9A):c.304G>T (p.Ala102Ser) rs201343843 0.00001
NM_001365536.1(SCN9A):c.434T>C (p.Met145Thr) rs200815709 0.00001
NM_001365536.1(SCN9A):c.470A>C (p.Tyr157Ser) rs1425019963 0.00001
NM_001365536.1(SCN9A):c.773T>G (p.Val258Gly) rs757286231 0.00001
NM_001365536.1(SCN9A):c.901+5G>C rs756005334 0.00001
NM_001365536.1(SCN9A):c.92A>T (p.Lys31Ile) rs920979487 0.00001
NM_001365536.1(SCN9A):c.130G>A (p.Glu44Lys)
NM_001365536.1(SCN9A):c.131AAG[1] (p.Glu45del) rs1198936365
NM_001365536.1(SCN9A):c.153T>A (p.Ser51Arg) rs199836776
NM_001365536.1(SCN9A):c.182T>A (p.Phe61Tyr) rs1698959890
NM_001365536.1(SCN9A):c.199C>T (p.Pro67Ser) rs1354932910
NM_001365536.1(SCN9A):c.226G>A (p.Glu76Lys)
NM_001365536.1(SCN9A):c.283A>C (p.Lys95Gln)
NM_001365536.1(SCN9A):c.296G>A (p.Arg99His) rs1292303985
NM_001365536.1(SCN9A):c.308C>T (p.Thr103Ile)
NM_001365536.1(SCN9A):c.377+1A>G
NM_001365536.1(SCN9A):c.390G>A (p.Met130Ile)
NM_001365536.1(SCN9A):c.417C>A (p.Asn139Lys) rs1553496443
NM_001365536.1(SCN9A):c.443C>T (p.Pro148Leu)
NM_001365536.1(SCN9A):c.583G>A (p.Val195Ile) rs775461240
NM_001365536.1(SCN9A):c.601T>A (p.Leu201Ile)
NM_001365536.1(SCN9A):c.715A>G (p.Ile239Val) rs1574901456
NM_001365536.1(SCN9A):c.794A>G (p.Gln265Arg) rs760189302
NM_001365536.1(SCN9A):c.811C>A (p.Leu271Met)

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.