ClinVar Miner

List of variants in gene combination CHRNA4, LOC100130587

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 78
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000744.7(CHRNA4):c.-182C>T rs191789990 0.62609
NM_000744.7(CHRNA4):c.76+157T>G rs11698563 0.47401
NM_000744.7(CHRNA4):c.-183C>T rs183345681 0.20643
NR_110634.1(LOC100130587):n.219C>T rs6122429 0.15920
NC_000020.11:g.63361542G>A rs12624510 0.07067
NC_000020.11:g.63361680C>T rs67568446 0.06524
NM_000744.7(CHRNA4):c.51G>A (p.Leu17=) rs79739740 0.05992
NM_000744.7(CHRNA4):c.76+95C>T rs62206940 0.03853
NM_000744.7(CHRNA4):c.24G>C (p.Ala8=) rs6089898 0.00898
NM_000744.7(CHRNA4):c.76+18G>T rs199908363 0.00504
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=) rs80075498 0.00257
NM_000744.7(CHRNA4):c.-1C>T rs200524076 0.00102
NM_000744.7(CHRNA4):c.42G>A (p.Pro14=) rs565990502 0.00048
NM_000744.7(CHRNA4):c.76+14C>A rs6090386 0.00026
NM_000744.7(CHRNA4):c.20G>C (p.Gly7Ala) rs1025632281 0.00006
NM_000744.7(CHRNA4):c.13G>A (p.Gly5Ser) rs1043176387 0.00002
NM_000744.7(CHRNA4):c.35T>C (p.Leu12Pro) rs1060503516 0.00002
NM_000744.7(CHRNA4):c.-25C>T rs1057518525 0.00001
NM_000744.7(CHRNA4):c.15C>G (p.Gly5=) rs1208135470 0.00001
NM_000744.7(CHRNA4):c.16C>T (p.Pro6Ser) rs796052312 0.00001
NM_000744.7(CHRNA4):c.17C>T (p.Pro6Leu) rs1238575890 0.00001
NM_000744.7(CHRNA4):c.38C>G (p.Pro13Arg) rs796052313 0.00001
NM_000744.7(CHRNA4):c.76+19G>A rs1432252194 0.00001
NC_000020.11:g.63361453T>A rs58134915
NC_000020.11:g.63361486A>G rs13043186
NM_000744.7(CHRNA4):c.-28C>T rs796052311
NM_000744.7(CHRNA4):c.-30C>A rs6090387
NM_000744.7(CHRNA4):c.-39G>A rs1057522008
NM_000744.7(CHRNA4):c.14G>T (p.Gly5Val) rs946142547
NM_000744.7(CHRNA4):c.14del (p.Gly5fs) rs2068814247
NM_000744.7(CHRNA4):c.15C>T (p.Gly5=)
NM_000744.7(CHRNA4):c.16C>A (p.Pro6Thr) rs796052312
NM_000744.7(CHRNA4):c.16C>G (p.Pro6Ala) rs796052312
NM_000744.7(CHRNA4):c.18C>G (p.Pro6=)
NM_000744.7(CHRNA4):c.19G>A (p.Gly7Arg)
NM_000744.7(CHRNA4):c.1A>T (p.Met1Leu) rs1359272155
NM_000744.7(CHRNA4):c.20G>A (p.Gly7Glu)
NM_000744.7(CHRNA4):c.21A>C (p.Gly7=)
NM_000744.7(CHRNA4):c.21A>G (p.Gly7=) rs1406609330
NM_000744.7(CHRNA4):c.24G>T (p.Ala8=)
NM_000744.7(CHRNA4):c.25C>T (p.Pro9Ser)
NM_000744.7(CHRNA4):c.27G>A (p.Pro9=)
NM_000744.7(CHRNA4):c.27_28delinsAG (p.Arg10Gly)
NM_000744.7(CHRNA4):c.28C>G (p.Arg10Gly) rs2068813671
NM_000744.7(CHRNA4):c.28_29delinsTT (p.Arg10Leu)
NM_000744.7(CHRNA4):c.29_40dup (p.Pro13_Pro14insArgLeuLeuPro)
NM_000744.7(CHRNA4):c.29_43dup (p.Arg10_Pro14dup) rs777630161
NM_000744.7(CHRNA4):c.2T>C (p.Met1Thr) rs2068814460
NM_000744.7(CHRNA4):c.33G>C (p.Leu11=)
NM_000744.7(CHRNA4):c.36G>A (p.Leu12=) rs1039600168
NM_000744.7(CHRNA4):c.38C>T (p.Pro13Leu)
NM_000744.7(CHRNA4):c.38_49dup (p.Pro13_Leu16dup) rs1064794327
NM_000744.7(CHRNA4):c.38_52del (p.Pro13_Leu17del) rs771936944
NM_000744.7(CHRNA4):c.38_52dup (p.Pro13_Leu17dup) rs771936944
NM_000744.7(CHRNA4):c.39G>A (p.Pro13=) rs1158391765
NM_000744.7(CHRNA4):c.41C>T (p.Pro14Leu) rs761934698
NM_000744.7(CHRNA4):c.42G>C (p.Pro14=)
NM_000744.7(CHRNA4):c.42G>T (p.Pro14=) rs565990502
NM_000744.7(CHRNA4):c.42GCT[5] (p.Leu19dup) rs1053984520
NM_000744.7(CHRNA4):c.44T>C (p.Leu15Pro) rs886044055
NM_000744.7(CHRNA4):c.4G>C (p.Glu2Gln) rs2145412501
NM_000744.7(CHRNA4):c.51G>C (p.Leu17=) rs79739740
NM_000744.7(CHRNA4):c.52_57dup (p.Leu18_Leu19dup) rs2068812649
NM_000744.7(CHRNA4):c.53T>G (p.Leu18Arg) rs796052314
NM_000744.7(CHRNA4):c.57G>A (p.Leu19=) rs927241644
NM_000744.7(CHRNA4):c.66C>T (p.Gly22=) rs2145412236
NM_000744.7(CHRNA4):c.72G>A (p.Leu24=)
NM_000744.7(CHRNA4):c.73C>T (p.Arg25Cys) rs2068812315
NM_000744.7(CHRNA4):c.74G>A (p.Arg25His)
NM_000744.7(CHRNA4):c.76+10G>A rs2145412202
NM_000744.7(CHRNA4):c.76+12G>C rs796052315
NM_000744.7(CHRNA4):c.76+13G>T
NM_000744.7(CHRNA4):c.76+1G>A rs2068812210
NM_000744.7(CHRNA4):c.76+9C>G
NM_000744.7(CHRNA4):c.77-303G>C rs45568238
NM_000744.7(CHRNA4):c.8T>A (p.Leu3Gln) rs2145412488
NM_000744.7(CHRNA4):c.8T>G (p.Leu3Arg) rs2145412488
NM_000744.7(CHRNA4):c.9del (p.Gly5fs) rs2145412485

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.