ClinVar Miner

List of variants in gene ABCC8 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 186
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_000352.6(ABCC8):c.-8G>T rs200091822 0.00270
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn) rs142272833 0.00130
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655 0.00116
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121 0.00102
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) rs117874766 0.00097
NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val) rs148709148 0.00093
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850 0.00072
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_000352.6(ABCC8):c.1919C>T (p.Ala640Val) rs369049969 0.00016
NM_000352.6(ABCC8):c.1818-6G>A rs368708177 0.00013
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.375C>G (p.His125Gln) rs60637558 0.00008
NM_000352.6(ABCC8):c.1457G>A (p.Arg486Gln) rs376080397 0.00007
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln) rs146378237 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.853C>T (p.Arg285Trp) rs773087569 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.2500C>T (p.Arg834Cys) rs140068774 0.00004
NM_000352.6(ABCC8):c.3613G>A (p.Glu1205Lys) rs768448830 0.00004
NM_000352.6(ABCC8):c.403C>G (p.Leu135Val) rs368450282 0.00004
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys) rs59852838 0.00003
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.1513G>A (p.Gly505Ser) rs200977997 0.00003
NM_000352.6(ABCC8):c.2235C>T (p.Ser745=) rs200708414 0.00003
NM_000352.6(ABCC8):c.2977G>A (p.Ala993Thr) rs148342166 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.4178G>A (p.Arg1393His) rs769279368 0.00003
NM_000352.6(ABCC8):c.794G>A (p.Arg265Gln) rs757018137 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.291-3C>T rs764107333 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.3877T>G (p.Tyr1293Asp) rs368710356 0.00002
NM_000352.4(ABCC8):c.-190C>G rs1395224084 0.00001
NM_000352.6(ABCC8):c.103C>T (p.Pro35Ser) rs1183465672 0.00001
NM_000352.6(ABCC8):c.134C>T (p.Pro45Leu) rs267606623 0.00001
NM_000352.6(ABCC8):c.1483C>T (p.Arg495Trp) rs775894336 0.00001
NM_000352.6(ABCC8):c.1531C>G (p.Leu511Val) rs773345085 0.00001
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro) rs797045206 0.00001
NM_000352.6(ABCC8):c.170A>G (p.Lys57Arg) rs762919223 0.00001
NM_000352.6(ABCC8):c.1801G>A (p.Val601Ile) rs1955813180 0.00001
NM_000352.6(ABCC8):c.1973G>T (p.Gly658Val) rs149400972 0.00001
NM_000352.6(ABCC8):c.2236G>A (p.Glu746Lys) rs753296261 0.00001
NM_000352.6(ABCC8):c.250G>A (p.Val84Ile) rs775776658 0.00001
NM_000352.6(ABCC8):c.2798G>A (p.Arg933Gln) rs745591375 0.00001
NM_000352.6(ABCC8):c.279C>A (p.Ile93=) rs550990673 0.00001
NM_000352.6(ABCC8):c.3053C>T (p.Ser1018Leu) rs775087568 0.00001
NM_000352.6(ABCC8):c.3455C>T (p.Ala1152Val) rs1354859002 0.00001
NM_000352.6(ABCC8):c.3619G>A (p.Val1207Ile) rs1227230033 0.00001
NM_000352.6(ABCC8):c.3658G>A (p.Ala1220Thr) rs1320499455 0.00001
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr) rs1266053680 0.00001
NM_000352.6(ABCC8):c.3788C>T (p.Ala1263Val) rs772094360 0.00001
NM_000352.6(ABCC8):c.3989-10C>T rs373737642 0.00001
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser) rs137852673 0.00001
NM_000352.6(ABCC8):c.4342A>G (p.Ser1448Gly) rs374703754 0.00001
NM_000352.6(ABCC8):c.4588C>T (p.Arg1530Cys) rs148808854 0.00001
NM_000352.6(ABCC8):c.4607C>T (p.Ala1536Val) rs745918247 0.00001
NM_000352.6(ABCC8):c.4608G>A (p.Ala1536=) rs1439464815 0.00001
NM_000352.6(ABCC8):c.4720G>A (p.Ala1574Thr) rs199736860 0.00001
NM_000352.6(ABCC8):c.602C>T (p.Pro201Leu) rs933815442 0.00001
NM_000352.6(ABCC8):c.793C>T (p.Arg265Trp) rs1057524701 0.00001
NM_000352.6(ABCC8):c.-64C>G
NM_000352.6(ABCC8):c.1015C>A (p.Gln339Lys) rs2133642509
NM_000352.6(ABCC8):c.1106A>G (p.Gln369Arg) rs756808492
NM_000352.6(ABCC8):c.1138_1139delinsAA (p.Ala380Asn)
NM_000352.6(ABCC8):c.1168G>A (p.Ala390Thr)
NM_000352.6(ABCC8):c.1178C>T (p.Thr393Ile) rs377104807
NM_000352.6(ABCC8):c.1220T>A (p.Leu407Gln) rs1564955834
NM_000352.6(ABCC8):c.1223C>A (p.Ser408Tyr)
NM_000352.6(ABCC8):c.1261G>T (p.Val421Phe)
NM_000352.6(ABCC8):c.1277A>G (p.Asn426Ser)
NM_000352.6(ABCC8):c.1363A>G (p.Ile455Val)
NM_000352.6(ABCC8):c.1391C>T (p.Ala464Val) rs1554933525
NM_000352.6(ABCC8):c.1412C>A (p.Ala471Asp)
NM_000352.6(ABCC8):c.1456C>T (p.Arg486Trp)
NM_000352.6(ABCC8):c.1468-48G>A
NM_000352.6(ABCC8):c.1507C>T (p.Leu503Phe)
NM_000352.6(ABCC8):c.1513G>C (p.Gly505Arg)
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys) rs193922397
NM_000352.6(ABCC8):c.1723G>A (p.Val575Met)
NM_000352.6(ABCC8):c.1766C>T (p.Pro589Leu) rs1955814875
NM_000352.6(ABCC8):c.1768C>G (p.Leu590Val)
NM_000352.6(ABCC8):c.1818-7del rs1955709311
NM_000352.6(ABCC8):c.1880A>G (p.His627Arg)
NM_000352.6(ABCC8):c.1943G>A (p.Arg648His)
NM_000352.6(ABCC8):c.1973G>A (p.Gly658Asp)
NM_000352.6(ABCC8):c.1999G>A (p.Val667Ile)
NM_000352.6(ABCC8):c.2012A>G (p.Asp671Gly)
NM_000352.6(ABCC8):c.2017G>A (p.Asp673Asn)
NM_000352.6(ABCC8):c.2041-12C>T rs201419039
NM_000352.6(ABCC8):c.2068C>G (p.Pro690Ala)
NM_000352.6(ABCC8):c.2075G>A (p.Gly692Glu) rs2133535445
NM_000352.6(ABCC8):c.2095A>G (p.Ile699Val)
NM_000352.6(ABCC8):c.2134G>T (p.Val712Leu)
NM_000352.6(ABCC8):c.2153G>T (p.Gly718Val) rs2133531880
NM_000352.6(ABCC8):c.2191C>G (p.Gln731Glu)
NM_000352.6(ABCC8):c.2263C>T (p.Arg755Trp)
NM_000352.6(ABCC8):c.2267A>G (p.Glu756Gly)
NM_000352.6(ABCC8):c.2280C>A (p.Asp760Glu)
NM_000352.6(ABCC8):c.2477G>A (p.Gly826Asp) rs1954875708
NM_000352.6(ABCC8):c.2527C>G (p.Leu843Val)
NM_000352.6(ABCC8):c.2539G>A (p.Ala847Thr) rs561593131
NM_000352.6(ABCC8):c.2562C>A (p.Asp854Glu)
NM_000352.6(ABCC8):c.257T>C (p.Val86Ala) rs193929360
NM_000352.6(ABCC8):c.2581_2586dup (p.His862_Leu863insIleHis)
NM_000352.6(ABCC8):c.2583C>G (p.Ile861Met)
NM_000352.6(ABCC8):c.2602A>G (p.Met868Val) rs2133461403
NM_000352.6(ABCC8):c.2700T>G (p.Ile900Met)
NM_000352.6(ABCC8):c.2725A>T (p.Arg909Trp)
NM_000352.6(ABCC8):c.2747T>C (p.Phe916Ser)
NM_000352.6(ABCC8):c.2773G>C (p.Glu925Gln)
NM_000352.6(ABCC8):c.2803G>A (p.Asp935Asn) rs778384865
NM_000352.6(ABCC8):c.2858A>C (p.Gln953Pro) rs761960758
NM_000352.6(ABCC8):c.2887G>C (p.Asp963His)
NM_000352.6(ABCC8):c.2895_2897del (p.Leu966del) rs751964033
NM_000352.6(ABCC8):c.2941G>A (p.Glu981Lys)
NM_000352.6(ABCC8):c.2969A>G (p.His990Arg) rs2133448138
NM_000352.6(ABCC8):c.2973G>C (p.Gln991His)
NM_000352.6(ABCC8):c.2975G>C (p.Arg992Pro) rs201499958
NM_000352.6(ABCC8):c.2993G>C (p.Arg998Pro) rs776248166
NM_000352.6(ABCC8):c.3047T>C (p.Val1016Ala)
NM_000352.6(ABCC8):c.3142A>G (p.Arg1048Gly)
NM_000352.6(ABCC8):c.3154C>T (p.Leu1052Phe)
NM_000352.6(ABCC8):c.3193A>T (p.Met1065Leu)
NM_000352.6(ABCC8):c.3290A>C (p.His1097Pro) rs1352191146
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val) rs2133711315
NM_000352.6(ABCC8):c.3408A>G (p.Pro1136=)
NM_000352.6(ABCC8):c.3505C>T (p.Pro1169Ser)
NM_000352.6(ABCC8):c.3551C>T (p.Ala1184Val) rs137852675
NM_000352.6(ABCC8):c.3650+5G>A
NM_000352.6(ABCC8):c.3753+6T>C
NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser) rs1185034563
NM_000352.6(ABCC8):c.3775G>A (p.Val1259Met)
NM_000352.6(ABCC8):c.3800T>C (p.Ile1267Thr)
NM_000352.6(ABCC8):c.3839T>C (p.Val1280Ala)
NM_000352.6(ABCC8):c.3926G>A (p.Gly1309Glu)
NM_000352.6(ABCC8):c.4012T>C (p.Trp1338Arg) rs1554905805
NM_000352.6(ABCC8):c.4028A>T (p.Lys1343Met) rs886039301
NM_000352.6(ABCC8):c.4057T>C (p.Tyr1353His)
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.6(ABCC8):c.4180A>G (p.Met1394Val) rs562677120
NM_000352.6(ABCC8):c.4208T>C (p.Ile1403Thr) rs2133401418
NM_000352.6(ABCC8):c.4210_4212del (p.Ile1404del)
NM_000352.6(ABCC8):c.4228G>A (p.Ala1410Thr)
NM_000352.6(ABCC8):c.4268T>G (p.Ile1423Ser) rs1564874456
NM_000352.6(ABCC8):c.4274T>C (p.Leu1425Pro) rs1953879871
NM_000352.6(ABCC8):c.4280A>T (p.Asp1427Val) rs1591709652
NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met) rs193922403
NM_000352.6(ABCC8):c.4400C>T (p.Pro1467Leu)
NM_000352.6(ABCC8):c.4439A>C (p.Asn1480Thr) rs2133395261
NM_000352.6(ABCC8):c.4546-6T>A rs2133393272
NM_000352.6(ABCC8):c.4555C>T (p.Leu1519Phe) rs2133393193
NM_000352.6(ABCC8):c.4601C>A (p.Thr1534Asn)
NM_000352.6(ABCC8):c.4606G>A (p.Ala1536Thr)
NM_000352.6(ABCC8):c.460T>G (p.Phe154Val) rs2133687586
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) rs193922408
NM_000352.6(ABCC8):c.4657C>T (p.Arg1553Trp)
NM_000352.6(ABCC8):c.4674G>C (p.Glu1558Asp)
NM_000352.6(ABCC8):c.4729G>A (p.Val1577Ile)
NM_000352.6(ABCC8):c.4733G>C (p.Arg1578Pro)
NM_000352.6(ABCC8):c.553G>A (p.Val185Met)
NM_000352.6(ABCC8):c.640G>A (p.Gly214Arg) rs1274656446
NM_000352.6(ABCC8):c.647G>C (p.Arg216Pro)
NM_000352.6(ABCC8):c.653T>C (p.Leu218Pro) rs2133680172
NM_000352.6(ABCC8):c.797T>C (p.Leu266Pro)
NM_000352.6(ABCC8):c.79T>G (p.Phe27Val) rs1202763483
NM_000352.6(ABCC8):c.806C>T (p.Ala269Val) rs372930264
NM_000352.6(ABCC8):c.823C>T (p.Arg275Trp)
NM_000352.6(ABCC8):c.84G>A (p.Val28=)
NM_000352.6(ABCC8):c.851C>T (p.Ala284Val)
NM_000352.6(ABCC8):c.916C>A (p.Arg306Ser) rs751228166
NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys)
NM_000352.6(ABCC8):c.984G>T (p.Gly328=)

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