ClinVar Miner

List of variants in gene ABCC8 reported as uncertain significance for diabetes mellitus, permanent neonatal 3

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 209
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_000352.6(ABCC8):c.1923+3G>A rs374869130 0.00028
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val) rs139486832 0.00022
NM_000352.6(ABCC8):c.2888A>G (p.Asp963Gly) rs538013271 0.00017
NM_000352.6(ABCC8):c.4412-14C>T rs193922404 0.00016
NM_000352.6(ABCC8):c.823-8C>T rs201000679 0.00014
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.3112G>A (p.Asp1038Asn) rs367974472 0.00010
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.375C>G (p.His125Gln) rs60637558 0.00008
NM_000352.6(ABCC8):c.973G>A (p.Asp325Asn) rs781480098 0.00008
NM_000352.6(ABCC8):c.1457G>A (p.Arg486Gln) rs376080397 0.00007
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn) rs531684936 0.00006
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys) rs200563930 0.00006
NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His) rs143557848 0.00006
NM_000352.6(ABCC8):c.647G>A (p.Arg216His) rs199702708 0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406 0.00006
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr) rs761748692 0.00005
NM_000352.6(ABCC8):c.2870G>A (p.Arg957His) rs775921458 0.00005
NM_000352.6(ABCC8):c.3073G>A (p.Val1025Ile) rs771882862 0.00005
NM_000352.6(ABCC8):c.692G>C (p.Trp231Ser) rs1057517139 0.00005
NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile) rs759961510 0.00004
NM_000352.6(ABCC8):c.3613G>A (p.Glu1205Lys) rs768448830 0.00004
NM_000352.6(ABCC8):c.3938G>A (p.Arg1313His) rs372153432 0.00004
NM_000352.6(ABCC8):c.403C>G (p.Leu135Val) rs368450282 0.00004
NM_000352.6(ABCC8):c.4C>A (p.Pro2Thr) rs756552692 0.00004
NM_000352.6(ABCC8):c.1270G>A (p.Asp424Asn) rs577545383 0.00003
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln) rs1420601296 0.00003
NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser) rs191697443 0.00003
NM_000352.6(ABCC8):c.313C>T (p.His105Tyr) rs766068851 0.00003
NM_000352.6(ABCC8):c.3308G>A (p.Arg1103Gln) rs765913448 0.00003
NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp) rs778892038 0.00003
NM_000352.6(ABCC8):c.822+3C>T rs370697909 0.00003
NM_000352.6(ABCC8):c.1970G>A (p.Arg657Gln) rs755707550 0.00002
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg) rs764349043 0.00002
NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys) rs1331539684 0.00002
NM_000352.6(ABCC8):c.2938G>A (p.Glu980Lys) rs1254230359 0.00002
NM_000352.6(ABCC8):c.3293G>A (p.Arg1098His) rs1057523131 0.00002
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) rs141322087 0.00002
NM_000352.6(ABCC8):c.4104C>T (p.Ile1368=) rs1345535328 0.00002
NM_000352.6(ABCC8):c.620C>T (p.Pro207Leu) rs750165947 0.00002
NC_000011.10:g.17476966G>C rs1395224084 0.00001
NM_000352.6(ABCC8):c.1412C>T (p.Ala471Val) rs780283224 0.00001
NM_000352.6(ABCC8):c.1531C>G (p.Leu511Val) rs773345085 0.00001
NM_000352.6(ABCC8):c.1666C>T (p.Leu556Phe) rs1362268812 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.2209G>A (p.Val737Ile) rs376206979 0.00001
NM_000352.6(ABCC8):c.2270C>G (p.Thr757Arg) rs757961130 0.00001
NM_000352.6(ABCC8):c.255G>A (p.Leu85=) rs1323334420 0.00001
NM_000352.6(ABCC8):c.2751G>A (p.Gln917=) rs769982482 0.00001
NM_000352.6(ABCC8):c.2753G>A (p.Arg918Lys) rs748585974 0.00001
NM_000352.6(ABCC8):c.2798G>A (p.Arg933Gln) rs745591375 0.00001
NM_000352.6(ABCC8):c.3158G>A (p.Ser1053Asn) rs767123465 0.00001
NM_000352.6(ABCC8):c.3493G>A (p.Val1165Met) rs769818698 0.00001
NM_000352.6(ABCC8):c.3658G>A (p.Ala1220Thr) rs1320499455 0.00001
NM_000352.6(ABCC8):c.371A>T (p.Tyr124Phe) rs1278920115 0.00001
NM_000352.6(ABCC8):c.4060G>A (p.Asp1354Asn) rs1199684247 0.00001
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser) rs137852673 0.00001
NM_000352.6(ABCC8):c.4141G>A (p.Gly1381Ser) rs773448052 0.00001
NM_000352.6(ABCC8):c.4267A>G (p.Ile1423Val) rs748831440 0.00001
NM_000352.6(ABCC8):c.4285G>A (p.Val1429Ile) rs755577144 0.00001
NM_000352.6(ABCC8):c.4342A>G (p.Ser1448Gly) rs374703754 0.00001
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile) rs768017509 0.00001
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) rs148529020 0.00001
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg) rs1201126343 0.00001
NM_000352.6(ABCC8):c.1011+17del
NM_000352.6(ABCC8):c.1024G>A (p.Gly342Arg) rs763028380
NM_000352.6(ABCC8):c.1064C>A (p.Ala355Asp)
NM_000352.6(ABCC8):c.1069G>A (p.Val357Ile)
NM_000352.6(ABCC8):c.1123G>A (p.Ala375Thr)
NM_000352.6(ABCC8):c.1265C>T (p.Ala422Val)
NM_000352.6(ABCC8):c.1268T>C (p.Ile423Thr)
NM_000352.6(ABCC8):c.1269C>A (p.Ile423=) rs370169777
NM_000352.6(ABCC8):c.1287G>A (p.Met429Ile)
NM_000352.6(ABCC8):c.1343G>C (p.Gly448Ala)
NM_000352.6(ABCC8):c.1396G>A (p.Val466Ile)
NM_000352.6(ABCC8):c.13T>G (p.Phe5Val)
NM_000352.6(ABCC8):c.1429G>A (p.Val477Met)
NM_000352.6(ABCC8):c.1468-14G>A
NM_000352.6(ABCC8):c.154G>A (p.Gly52Arg)
NM_000352.6(ABCC8):c.1555C>T (p.Arg519Cys)
NM_000352.6(ABCC8):c.1570A>G (p.Thr524Ala)
NM_000352.6(ABCC8):c.1577G>A (p.Arg526His)
NM_000352.6(ABCC8):c.1682G>A (p.Gly561Asp)
NM_000352.6(ABCC8):c.1687G>A (p.Val563Ile) rs1554926621
NM_000352.6(ABCC8):c.1717C>T (p.Pro573Ser)
NM_000352.6(ABCC8):c.171G>C (p.Lys57Asn)
NM_000352.6(ABCC8):c.1741T>A (p.Ser581Thr)
NM_000352.6(ABCC8):c.1766C>T (p.Pro589Leu) rs1955814875
NM_000352.6(ABCC8):c.1813G>A (p.Val605Met)
NM_000352.6(ABCC8):c.1900C>G (p.Pro634Ala)
NM_000352.6(ABCC8):c.1924-18C>A
NM_000352.6(ABCC8):c.1957C>T (p.Arg653Trp)
NM_000352.6(ABCC8):c.1962G>C (p.Glu654Asp)
NM_000352.6(ABCC8):c.2017G>A (p.Asp673Asn)
NM_000352.6(ABCC8):c.2030G>A (p.Cys677Tyr)
NM_000352.6(ABCC8):c.2041-12C>A rs201419039
NM_000352.6(ABCC8):c.2054A>G (p.Tyr685Cys)
NM_000352.6(ABCC8):c.2073T>A (p.Asp691Glu)
NM_000352.6(ABCC8):c.2114G>A (p.Arg705Gln)
NM_000352.6(ABCC8):c.2135T>C (p.Val712Ala)
NM_000352.6(ABCC8):c.2152G>A (p.Gly718Ser)
NM_000352.6(ABCC8):c.2164C>T (p.Leu722Phe)
NM_000352.6(ABCC8):c.2176G>T (p.Ala726Ser)
NM_000352.6(ABCC8):c.2191C>G (p.Gln731Glu)
NM_000352.6(ABCC8):c.2222+15C>A rs377174421
NM_000352.6(ABCC8):c.2256C>T (p.Ser752=)
NM_000352.6(ABCC8):c.2278G>A (p.Asp760Asn)
NM_000352.6(ABCC8):c.2543A>G (p.Asn848Ser)
NM_000352.6(ABCC8):c.2572G>A (p.Ala858Thr)
NM_000352.6(ABCC8):c.2630G>A (p.Arg877Gln)
NM_000352.6(ABCC8):c.2680C>T (p.Pro894Ser)
NM_000352.6(ABCC8):c.2706G>A (p.Met902Ile)
NM_000352.6(ABCC8):c.278T>C (p.Ile93Thr)
NM_000352.6(ABCC8):c.2854C>T (p.Pro952Ser)
NM_000352.6(ABCC8):c.2858A>C (p.Gln953Pro) rs761960758
NM_000352.6(ABCC8):c.2869C>G (p.Arg957Gly) rs761160857
NM_000352.6(ABCC8):c.2869C>T (p.Arg957Cys)
NM_000352.6(ABCC8):c.2894T>C (p.Leu965Pro)
NM_000352.6(ABCC8):c.291-5C>T rs2133711631
NM_000352.6(ABCC8):c.291G>A (p.Gly97=)
NM_000352.6(ABCC8):c.2929G>A (p.Ala977Thr) rs568576108
NM_000352.6(ABCC8):c.2929G>C (p.Ala977Pro)
NM_000352.6(ABCC8):c.2957C>T (p.Ser986Leu)
NM_000352.6(ABCC8):c.2960C>T (p.Ser987Phe)
NM_000352.6(ABCC8):c.2969A>C (p.His990Pro)
NM_000352.6(ABCC8):c.2975G>C (p.Arg992Pro) rs201499958
NM_000352.6(ABCC8):c.2980G>A (p.Glu994Lys)
NM_000352.6(ABCC8):c.298G>A (p.Glu100Lys)
NM_000352.6(ABCC8):c.2993G>C (p.Arg998Pro) rs776248166
NM_000352.6(ABCC8):c.3001G>A (p.Ala1001Thr)
NM_000352.6(ABCC8):c.3014C>T (p.Ser1005Phe)
NM_000352.6(ABCC8):c.3019G>C (p.Ala1007Pro)
NM_000352.6(ABCC8):c.302C>T (p.Ser101Phe)
NM_000352.6(ABCC8):c.3117C>A (p.Ser1039Arg)
NM_000352.6(ABCC8):c.3170C>A (p.Thr1057Asn)
NM_000352.6(ABCC8):c.3188A>G (p.Tyr1063Cys)
NM_000352.6(ABCC8):c.3238G>A (p.Val1080Ile)
NM_000352.6(ABCC8):c.3327G>C (p.Met1109Ile)
NM_000352.6(ABCC8):c.3330-5C>T
NM_000352.6(ABCC8):c.3330G>A (p.Arg1110=)
NM_000352.6(ABCC8):c.3335T>C (p.Phe1112Ser)
NM_000352.6(ABCC8):c.343A>G (p.Met115Val) rs146695489
NM_000352.6(ABCC8):c.3455C>A (p.Ala1152Asp) rs1354859002
NM_000352.6(ABCC8):c.3457C>A (p.Leu1153Met)
NM_000352.6(ABCC8):c.3484G>A (p.Val1162Met)
NM_000352.6(ABCC8):c.3515T>A (p.Ile1172Asn)
NM_000352.6(ABCC8):c.3589C>G (p.Leu1197Val)
NM_000352.6(ABCC8):c.3623_3625del (p.Glu1208del)
NM_000352.6(ABCC8):c.3649A>G (p.Arg1217Gly) rs770028071
NM_000352.6(ABCC8):c.3662G>A (p.Arg1221Gln)
NM_000352.6(ABCC8):c.3665T>C (p.Phe1222Ser)
NM_000352.6(ABCC8):c.3682G>A (p.Glu1228Lys)
NM_000352.6(ABCC8):c.3775G>A (p.Val1259Met)
NM_000352.6(ABCC8):c.3777G>T (p.Val1259=)
NM_000352.6(ABCC8):c.3799A>G (p.Ile1267Val)
NM_000352.6(ABCC8):c.3837G>A (p.Leu1279=)
NM_000352.6(ABCC8):c.3875A>G (p.Asn1292Ser) rs763104338
NM_000352.6(ABCC8):c.3893T>A (p.Val1298Glu)
NM_000352.6(ABCC8):c.389C>G (p.Ser130Cys)
NM_000352.6(ABCC8):c.3928G>T (p.Ala1310Ser)
NM_000352.6(ABCC8):c.392A>C (p.Asn131Thr)
NM_000352.6(ABCC8):c.3988+19G>C rs576340695
NM_000352.6(ABCC8):c.3988+9C>G
NM_000352.6(ABCC8):c.3988G>T (p.Ala1330Ser)
NM_000352.6(ABCC8):c.3989-14A>G
NM_000352.6(ABCC8):c.3989-28_3989-11del
NM_000352.6(ABCC8):c.4028A>T (p.Lys1343Met) rs886039301
NM_000352.6(ABCC8):c.4034A>G (p.Gln1345Arg)
NM_000352.6(ABCC8):c.4089C>G (p.His1363Gln)
NM_000352.6(ABCC8):c.4090G>T (p.Val1364Phe) rs138642224
NM_000352.6(ABCC8):c.4105G>A (p.Ala1369Thr)
NM_000352.6(ABCC8):c.4140C>A (p.Thr1380=)
NM_000352.6(ABCC8):c.4198+3G>T
NM_000352.6(ABCC8):c.4207A>G (p.Ile1403Val)
NM_000352.6(ABCC8):c.4228G>A (p.Ala1410Thr)
NM_000352.6(ABCC8):c.4326G>C (p.Glu1442Asp)
NM_000352.6(ABCC8):c.4345A>C (p.Thr1449Pro)
NM_000352.6(ABCC8):c.4357G>A (p.Ala1453Thr)
NM_000352.6(ABCC8):c.4411+18T>G
NM_000352.6(ABCC8):c.443T>C (p.Ile148Thr)
NM_000352.6(ABCC8):c.4456A>G (p.Arg1486Gly)
NM_000352.6(ABCC8):c.4498A>G (p.Ser1500Gly)
NM_000352.6(ABCC8):c.4601C>A (p.Thr1534Asn)
NM_000352.6(ABCC8):c.4657C>T (p.Arg1553Trp)
NM_000352.6(ABCC8):c.4702C>T (p.Arg1568Trp)
NM_000352.6(ABCC8):c.643G>T (p.Val215Leu)
NM_000352.6(ABCC8):c.664G>A (p.Val222Met)
NM_000352.6(ABCC8):c.703G>A (p.Ala235Thr)
NM_000352.6(ABCC8):c.713A>G (p.Lys238Arg)
NM_000352.6(ABCC8):c.73G>A (p.Gly25Ser)
NM_000352.6(ABCC8):c.743G>A (p.Arg248Gln)
NM_000352.6(ABCC8):c.752G>A (p.Gly251Glu)
NM_000352.6(ABCC8):c.752G>T (p.Gly251Val)
NM_000352.6(ABCC8):c.763A>G (p.Ile255Val)
NM_000352.6(ABCC8):c.7C>G (p.Leu3Val)
NM_000352.6(ABCC8):c.806C>A (p.Ala269Asp) rs372930264
NM_000352.6(ABCC8):c.814G>A (p.Ala272Thr)
NM_000352.6(ABCC8):c.823C>T (p.Arg275Trp)
NM_000352.6(ABCC8):c.868G>C (p.Ala290Pro)
NM_000352.6(ABCC8):c.874A>G (p.Ser292Gly)
NM_000352.6(ABCC8):c.878A>G (p.His293Arg) rs587783175
NM_000352.6(ABCC8):c.916C>A (p.Arg306Ser) rs751228166
NM_000352.6(ABCC8):c.97G>T (p.Val33Leu) rs768372267
NM_000352.6(ABCC8):c.984G>T (p.Gly328=)

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.