ClinVar Miner

List of variants in gene ABCC8 reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
ClinVar version:
Total variants: 159
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HGVS dbSNP
NM_000352.5(ABCC8):c.1672-20A>G rs931436550
NM_000352.5(ABCC8):c.2041-12C>A rs201419039
NM_000352.5(ABCC8):c.2041-12C>T rs201419039
NM_000352.5(ABCC8):c.2041-25G>A rs1554924660
NM_000352.5(ABCC8):c.2222+15C>A rs377174421
NM_000352.5(ABCC8):c.2256-3C>T rs756328102
NM_000352.5(ABCC8):c.2256-9C>T rs886048052
NM_000352.5(ABCC8):c.2694+15G>A rs886048051
NM_000352.5(ABCC8):c.2694+3G>A rs1554914779
NM_000352.5(ABCC8):c.2694+4A>T rs1554914771
NM_000352.5(ABCC8):c.3399+13G>A rs182340196
NM_000352.5(ABCC8):c.3558-6C>G rs886048050
NM_000352.5(ABCC8):c.3558-8C>T rs544550330
NM_000352.5(ABCC8):c.3867+7G>A rs372198547
NM_000352.5(ABCC8):c.4119+15C>T rs58368439
NM_000352.5(ABCC8):c.413-15A>G rs758744263
NM_000352.5(ABCC8):c.413-5G>A rs186946111
NM_000352.5(ABCC8):c.4199-8C>T rs886048048
NM_000352.5(ABCC8):c.4307+13A>C rs886048047
NM_000352.5(ABCC8):c.823-7T>A rs1554942148
NM_000352.6(ABCC8):c.*93T>A rs886048046
NM_000352.6(ABCC8):c.-8G>T rs200091822
NM_000352.6(ABCC8):c.103C>T (p.Pro35Ser) rs1183465672
NM_000352.6(ABCC8):c.105G>A (p.Pro35=) rs199925058
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys) rs59852838
NM_000352.6(ABCC8):c.115_123del (p.Leu39_Phe41del) rs1554949238
NM_000352.6(ABCC8):c.119T>G (p.Leu40Arg) rs1554949242
NM_000352.6(ABCC8):c.1215C>T (p.Ser405=)
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669
NM_000352.6(ABCC8):c.1269C>A (p.Ile423=)
NM_000352.6(ABCC8):c.126_146dup (p.Thr43_Ile49dup) rs1554949190
NM_000352.6(ABCC8):c.1282C>G (p.Leu428Val)
NM_000352.6(ABCC8):c.1337T>C (p.Ile446Thr) rs765529676
NM_000352.6(ABCC8):c.1391C>T (p.Ala464Val) rs1554933525
NM_000352.6(ABCC8):c.145A>T (p.Ile49Phe) rs1554949196
NM_000352.6(ABCC8):c.148+3G>A
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln) rs1420601296
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr) rs761748692
NM_000352.6(ABCC8):c.1585_1587del (p.Glu529del) rs1554933031
NM_000352.6(ABCC8):c.1605C>T (p.Ala535=) rs886048055
NM_000352.6(ABCC8):c.1613T>C (p.Ile538Thr) rs886048054
NM_000352.6(ABCC8):c.1630+5G>T
NM_000352.6(ABCC8):c.1630+8C>T
NM_000352.6(ABCC8):c.1643C>T (p.Thr548Met)
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=) rs147623093
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708
NM_000352.6(ABCC8):c.1924-9C>T
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=) rs75376282
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln) rs146378237
NM_000352.6(ABCC8):c.1970G>A (p.Arg657Gln) rs755707550
NM_000352.6(ABCC8):c.2060C>T (p.Thr687Met) rs150316347
NM_000352.6(ABCC8):c.208G>C (p.Gly70Arg) rs764349043
NM_000352.6(ABCC8):c.2163G>T (p.Ser721=)
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850
NM_000352.6(ABCC8):c.2180T>G (p.Leu727Arg) rs1554924079
NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser)
NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys)
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722
NM_000352.6(ABCC8):c.250G>A (p.Val84Ile) rs775776658
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn) rs531684936
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr) rs761862121
NM_000352.6(ABCC8):c.2937C>T (p.Ser979=) rs780868010
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=) rs58820146
NM_000352.6(ABCC8):c.2977G>A (p.Ala993Thr)
NM_000352.6(ABCC8):c.2993G>C (p.Arg998Pro) rs776248166
NM_000352.6(ABCC8):c.3053C>T (p.Ser1018Leu) rs775087568
NM_000352.6(ABCC8):c.3076C>T (p.Leu1026=)
NM_000352.6(ABCC8):c.307C>T (p.His103Tyr) rs751209734
NM_000352.6(ABCC8):c.3088G>A (p.Asp1030Asn) rs1225850029
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn) rs367974472
NM_000352.6(ABCC8):c.3158G>A (p.Ser1053Asn)
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121
NM_000352.6(ABCC8):c.3224T>C (p.Ile1075Thr) rs745895362
NM_000352.6(ABCC8):c.3243G>A (p.Thr1081=) rs771538281
NM_000352.6(ABCC8):c.3243_3251del (p.Ser1082_Thr1084del) rs1271445653
NM_000352.6(ABCC8):c.343A>G (p.Met115Val) rs146695489
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=)
NM_000352.6(ABCC8):c.3470_3472del (p.Ser1157del) rs1554910736
NM_000352.6(ABCC8):c.354C>T (p.Val118=) rs137873871
NM_000352.6(ABCC8):c.3552G>A (p.Ala1184=) rs144207158
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val) rs139486832
NM_000352.6(ABCC8):c.3650+4C>G
NM_000352.6(ABCC8):c.3705T>C (p.Ile1235=) rs886048049
NM_000352.6(ABCC8):c.3736T>C (p.Trp1246Arg) rs1554906790
NM_000352.6(ABCC8):c.3759_3767dup (p.Ile1254_Ala1256dup) rs1554906427
NM_000352.6(ABCC8):c.375C>G (p.His125Gln) rs60637558
NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser) rs1185034563
NM_000352.6(ABCC8):c.3788C>A (p.Ala1263Glu) rs772094360
NM_000352.6(ABCC8):c.3858C>T (p.Tyr1286=) rs377045545
NM_000352.6(ABCC8):c.3877T>G (p.Tyr1293Asp)
NM_000352.6(ABCC8):c.3905C>T (p.Ala1302Val) rs1340859533
NM_000352.6(ABCC8):c.3938G>A (p.Arg1313His) rs372153432
NM_000352.6(ABCC8):c.3951C>G (p.Leu1317=) rs765708759
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427
NM_000352.6(ABCC8):c.3982C>A (p.Leu1328Ile)
NM_000352.6(ABCC8):c.3989-10C>T rs373737642
NM_000352.6(ABCC8):c.3989-3C>G rs1324242791
NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn) rs67767715
NM_000352.6(ABCC8):c.4012T>A (p.Trp1338Arg) rs1554905805
NM_000352.6(ABCC8):c.403C>G (p.Leu135Val) rs368450282
NM_000352.6(ABCC8):c.4077G>A (p.Pro1359=) rs547430068
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.6(ABCC8):c.4096G>A (p.Ala1366Thr) rs1554905695
NM_000352.6(ABCC8):c.4097C>A (p.Ala1366Asp) rs746811190
NM_000352.6(ABCC8):c.4115AGA[1] (p.Lys1373del) rs1554905655
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=) rs562715858
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg) rs925231098
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser) rs137852673
NM_000352.6(ABCC8):c.4141G>A (p.Gly1381Ser) rs773448052
NM_000352.6(ABCC8):c.4171T>G (p.Phe1391Val)
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His) rs769279368
NM_000352.6(ABCC8):c.4239G>T (p.Pro1413=) rs373478721
NM_000352.6(ABCC8):c.4253G>T (p.Arg1418Leu) rs1446306735
NM_000352.6(ABCC8):c.4325A>T (p.Glu1442Val)
NM_000352.6(ABCC8):c.4349T>C (p.Leu1450Pro) rs1554904565
NM_000352.6(ABCC8):c.4366A>G (p.Ile1456Val)
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271
NM_000352.6(ABCC8):c.4410C>T (p.Leu1470=)
NM_000352.6(ABCC8):c.4431C>T (p.Gly1477=) rs145673861
NM_000352.6(ABCC8):c.4446C>A (p.Ser1482Arg) rs1554904107
NM_000352.6(ABCC8):c.4456_4461del (p.Arg1486_Gln1487del) rs1554904088
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=) rs113282901
NM_000352.6(ABCC8):c.4545+9T>C
NM_000352.6(ABCC8):c.4563G>C (p.Lys1521Asn) rs142272833
NM_000352.6(ABCC8):c.4605C>T (p.Ile1535=) rs780203284
NM_000352.6(ABCC8):c.4607C>T (p.Ala1536Val) rs745918247
NM_000352.6(ABCC8):c.4608G>A (p.Ala1536=) rs1439464815
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) rs193922408
NM_000352.6(ABCC8):c.4647C>T (p.Ile1549=) rs367862706
NM_000352.6(ABCC8):c.4690A>G (p.Lys1564Glu) rs770317560
NM_000352.6(ABCC8):c.486C>T (p.Ile162=) rs149872185
NM_000352.6(ABCC8):c.507C>T (p.Phe169=)
NM_000352.6(ABCC8):c.524T>A (p.Leu175Gln) rs1554943599
NM_000352.6(ABCC8):c.536A>G (p.Tyr179Cys) rs919281813
NM_000352.6(ABCC8):c.541A>T (p.Met181Leu) rs368894930
NM_000352.6(ABCC8):c.580-7C>A
NM_000352.6(ABCC8):c.587T>A (p.Ile196Asn)
NM_000352.6(ABCC8):c.589TTC[1] (p.Phe198del) rs772409200
NM_000352.6(ABCC8):c.620C>T (p.Pro207Leu)
NM_000352.6(ABCC8):c.621C>T (p.Pro207=)
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile) rs768017509
NM_000352.6(ABCC8):c.691T>C (p.Trp231Arg) rs1554942704
NM_000352.6(ABCC8):c.723C>T (p.His241=)
NM_000352.6(ABCC8):c.734T>C (p.Ile245Thr)
NM_000352.6(ABCC8):c.74G>T (p.Gly25Val)
NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp)
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406
NM_000352.6(ABCC8):c.853C>T (p.Arg285Trp) rs773087569
NM_000352.6(ABCC8):c.878A>C (p.His293Pro) rs587783175
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) rs148529020
NM_000352.6(ABCC8):c.917G>A (p.Arg306His) rs1409900082
NM_000352.6(ABCC8):c.926C>G (p.Ala309Gly) rs149347593
NM_000352.6(ABCC8):c.933G>C (p.Leu311=)
NM_000352.6(ABCC8):c.97G>T (p.Val33Leu) rs768372267
NM_001287174.2(ABCC8):c.1332+4del rs587783164
NM_001287174.2(ABCC8):c.291-3C>T rs764107333

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