ClinVar Miner

List of variants in gene ABCC8 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.-8G>T rs200091822 0.00270
NM_000352.4(ABCC8):c.-215_-214del rs902564696 0.00185
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn) rs142272833 0.00130
NM_000352.4(ABCC8):c.-215G>C rs546148657 0.00119
NM_000352.6(ABCC8):c.4656G>A (p.Lys1552=) rs145386421 0.00115
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) rs117874766 0.00097
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val) rs139486832 0.00022
NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=) rs186634115 0.00017
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln) rs368114790 0.00011
NM_000352.6(ABCC8):c.892C>T (p.Arg298Cys) rs144705160 0.00011
NM_000352.6(ABCC8):c.1189A>C (p.Asn397His) rs199763382 0.00009
NM_000352.6(ABCC8):c.3413C>T (p.Thr1138Met) rs201351976 0.00008
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=) rs562715858 0.00008
NM_000352.6(ABCC8):c.973G>A (p.Asp325Asn) rs781480098 0.00008
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn) rs531684936 0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406 0.00006
NM_000352.6(ABCC8):c.4482C>T (p.Ala1494=) rs374853931 0.00005
NM_000352.6(ABCC8):c.1332+9T>C rs775059899 0.00003
NM_000352.6(ABCC8):c.1513G>A (p.Gly505Ser) rs200977997 0.00003
NM_000352.6(ABCC8):c.123C>T (p.Phe41=) rs778891891 0.00002
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr) rs761862121 0.00002
NM_000352.6(ABCC8):c.291-3C>T rs764107333 0.00002
NM_000352.6(ABCC8):c.1183A>T (p.Ile395Phe) rs542947894 0.00001
NM_000352.6(ABCC8):c.1942C>T (p.Arg648Cys) rs373175144 0.00001
NM_000352.6(ABCC8):c.1973G>T (p.Gly658Val) rs149400972 0.00001
NM_000352.6(ABCC8):c.2798G>A (p.Arg933Gln) rs745591375 0.00001
NM_000352.6(ABCC8):c.371A>T (p.Tyr124Phe) rs1278920115 0.00001
NM_000352.6(ABCC8):c.4267A>G (p.Ile1423Val) rs748831440 0.00001
NM_000352.6(ABCC8):c.4314C>T (p.Asn1438=) rs752809991 0.00001
NM_000352.6(ABCC8):c.4588C>T (p.Arg1530Cys) rs148808854 0.00001
NM_000352.3(ABCC8):c.-111delG rs1409923989
NM_000352.3(ABCC8):c.-71A>T rs2133739075
NM_000352.4(ABCC8):c.-385G>A rs1052653345
NM_000352.4(ABCC8):c.-516C>G rs1361833406
NM_000352.4(ABCC8):c.-545A>G rs2133740783
NM_000352.6(ABCC8):c.*7A>C rs760439027
NM_000352.6(ABCC8):c.122T>C (p.Phe41Ser)
NM_000352.6(ABCC8):c.1235T>A (p.Met412Lys) rs2133617327
NM_000352.6(ABCC8):c.1291T>C (p.Phe431Leu) rs1956630610
NM_000352.6(ABCC8):c.1596C>G (p.Ser532Arg) rs761871453
NM_000352.6(ABCC8):c.1687G>A (p.Val563Ile) rs1554926621
NM_000352.6(ABCC8):c.2566T>C (p.Phe856Leu) rs2133461549
NM_000352.6(ABCC8):c.2797C>G (p.Arg933Gly) rs570388861
NM_000352.6(ABCC8):c.2825C>G (p.Thr942Ser) rs1224638633
NM_000352.6(ABCC8):c.2858A>C (p.Gln953Pro) rs761960758
NM_000352.6(ABCC8):c.2975G>C (p.Arg992Pro) rs201499958
NM_000352.6(ABCC8):c.3013T>A (p.Ser1005Thr)
NM_000352.6(ABCC8):c.3088G>A (p.Asp1030Asn) rs1225850029
NM_000352.6(ABCC8):c.362T>C (p.Val121Ala) rs2133711122
NM_000352.6(ABCC8):c.3755A>G (p.Glu1252Gly) rs797045210
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.6(ABCC8):c.413-5G>A rs186946111
NM_000352.6(ABCC8):c.4438A>C (p.Asn1480His) rs1591705863
NM_000352.6(ABCC8):c.4438A>T (p.Asn1480Tyr) rs1591705863
NM_000352.6(ABCC8):c.4444A>C (p.Ser1482Arg) rs2133395244
NM_000352.6(ABCC8):c.4469G>A (p.Cys1490Tyr) rs1180424930
NM_000352.6(ABCC8):c.4591A>G (p.Thr1531Ala) rs796891223
NM_000352.6(ABCC8):c.46C>T (p.Arg16Trp) rs1591935006
NM_000352.6(ABCC8):c.806C>T (p.Ala269Val) rs372930264
NM_000352.6(ABCC8):c.878A>C (p.His293Pro) rs587783175
NM_000352.6(ABCC8):c.899T>C (p.Val300Ala) rs2133674861
NM_000352.6(ABCC8):c.947G>A (p.Gly316Glu) rs797045214

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.