ClinVar Miner

List of variants in gene ABCC8 reported as uncertain significance

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Total variants: 155
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HGVS dbSNP
NM_000352.4(ABCC8):c.*93T>A rs886048046
NM_000352.4(ABCC8):c.-113G>A rs886048056
NM_000352.4(ABCC8):c.-19A>G rs193922394
NM_000352.4(ABCC8):c.-215G>C rs546148657
NM_000352.4(ABCC8):c.-215_-214del rs902564696
NM_000352.4(ABCC8):c.-385G>A rs1052653345
NM_000352.4(ABCC8):c.-544G>A rs184908312
NM_000352.4(ABCC8):c.-72G>A rs541244107
NM_000352.4(ABCC8):c.-8G>T rs200091822
NM_000352.4(ABCC8):c.103C>T (p.Pro35Ser) rs1183465672
NM_000352.4(ABCC8):c.105G>A (p.Pro35=) rs199925058
NM_000352.4(ABCC8):c.1067A>G (p.Tyr356Cys) rs59852838
NM_000352.4(ABCC8):c.115_123del (p.Leu39_Phe41del) rs1554949238
NM_000352.4(ABCC8):c.1177-56G>A rs183921963
NM_000352.4(ABCC8):c.119T>G (p.Leu40Arg) rs1554949242
NM_000352.4(ABCC8):c.1220T>A (p.Leu407Gln)
NM_000352.4(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669
NM_000352.4(ABCC8):c.126_146dup (p.Ile49_Gly50insThrPheProIleLeuPheIle) rs1554949190
NM_000352.4(ABCC8):c.1270G>A (p.Asp424Asn) rs577545383
NM_000352.4(ABCC8):c.1332+17G>C rs193922395
NM_000352.4(ABCC8):c.1332+4del rs587783164
NM_000352.4(ABCC8):c.1384A>G (p.Ile462Val) rs117874766
NM_000352.4(ABCC8):c.145A>T (p.Ile49Phe) rs1554949196
NM_000352.4(ABCC8):c.1484G>A (p.Arg495Gln) rs1420601296
NM_000352.4(ABCC8):c.1537G>A (p.Ala513Thr) rs761748692
NM_000352.4(ABCC8):c.1562G>A (p.Arg521Gln) rs368114790
NM_000352.4(ABCC8):c.1585_1587del (p.Glu529del) rs1554933031
NM_000352.4(ABCC8):c.1605C>T (p.Ala535=) rs886048055
NM_000352.4(ABCC8):c.1613T>C (p.Ile538Thr) rs886048054
NM_000352.4(ABCC8):c.1630+10C>T rs188075767
NM_000352.4(ABCC8):c.1672-20A>G
NM_000352.4(ABCC8):c.1687G>A (p.Val563Ile) rs1554926621
NM_000352.4(ABCC8):c.1707C>T (p.Ala569=) rs147623093
NM_000352.4(ABCC8):c.170A>G (p.Lys57Arg)
NM_000352.4(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708
NM_000352.4(ABCC8):c.1874C>T (p.Ala625Val)
NM_000352.4(ABCC8):c.1924-10C>T rs200823913
NM_000352.4(ABCC8):c.1970G>A (p.Arg657Gln) rs755707550
NM_000352.4(ABCC8):c.2041-12C>A rs201419039
NM_000352.4(ABCC8):c.2041-12C>T rs201419039
NM_000352.4(ABCC8):c.2041-25G>A rs1554924660
NM_000352.4(ABCC8):c.208G>C (p.Gly70Arg) rs764349043
NM_000352.4(ABCC8):c.2117-10C>A rs886048053
NM_000352.4(ABCC8):c.2117-12C>A rs193922398
NM_000352.4(ABCC8):c.2143G>A (p.Val715Met) rs1554924142
NM_000352.4(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850
NM_000352.4(ABCC8):c.2180T>G (p.Leu727Arg) rs1554924079
NM_000352.4(ABCC8):c.2222+15C>A rs377174421
NM_000352.4(ABCC8):c.2256-3C>T rs756328102
NM_000352.4(ABCC8):c.2256-9C>T rs886048052
NM_000352.4(ABCC8):c.250G>A (p.Val84Ile) rs775776658
NM_000352.4(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342
NM_000352.4(ABCC8):c.2539G>A (p.Ala847Thr)
NM_000352.4(ABCC8):c.2610C>T (p.Ala870=) rs111967655
NM_000352.4(ABCC8):c.2666A>C (p.Lys889Thr) rs761862121
NM_000352.4(ABCC8):c.2694+15G>A rs886048051
NM_000352.4(ABCC8):c.2694+3G>A rs1554914779
NM_000352.4(ABCC8):c.2694+4A>T rs1554914771
NM_000352.4(ABCC8):c.2858A>C (p.Gln953Pro) rs761960758
NM_000352.4(ABCC8):c.291-3C>T rs764107333
NM_000352.4(ABCC8):c.2937C>T (p.Ser979=) rs780868010
NM_000352.4(ABCC8):c.2992C>T (p.Arg998Ter) rs769518471
NM_000352.4(ABCC8):c.2993G>C (p.Arg998Pro) rs776248166
NM_000352.4(ABCC8):c.3053C>T (p.Ser1018Leu) rs775087568
NM_000352.4(ABCC8):c.307C>T (p.His103Tyr) rs751209734
NM_000352.4(ABCC8):c.3088G>A (p.Asp1030Asn) rs1225850029
NM_000352.4(ABCC8):c.3112G>A (p.Asp1038Asn) rs367974472
NM_000352.4(ABCC8):c.3203C>T (p.Thr1068Met)
NM_000352.4(ABCC8):c.3224T>C (p.Ile1075Thr) rs745895362
NM_000352.4(ABCC8):c.3243_3251del (p.Ser1082_Thr1084del) rs1271445653
NM_000352.4(ABCC8):c.3293G>A (p.Arg1098His) rs1057523131
NM_000352.4(ABCC8):c.3345G>A (p.Thr1115=) rs186634115
NM_000352.4(ABCC8):c.3399+13G>A rs182340196
NM_000352.4(ABCC8):c.343A>G (p.Met115Val)
NM_000352.4(ABCC8):c.3455C>A (p.Ala1152Asp) rs1354859002
NM_000352.4(ABCC8):c.3455C>T (p.Ala1152Val) rs1354859002
NM_000352.4(ABCC8):c.3470_3472del (p.Ser1157del) rs1554910736
NM_000352.4(ABCC8):c.3558-6C>G rs886048050
NM_000352.4(ABCC8):c.3558-7G>A rs900191703
NM_000352.4(ABCC8):c.3705T>C (p.Ile1235=) rs886048049
NM_000352.4(ABCC8):c.3736T>C (p.Trp1246Arg) rs1554906790
NM_000352.4(ABCC8):c.3755A>G (p.Glu1252Gly) rs797045210
NM_000352.4(ABCC8):c.3759_3767dup (p.Ala1256_Cys1257insIleGlyAla) rs1554906427
NM_000352.4(ABCC8):c.375C>G (p.His125Gln) rs60637558
NM_000352.4(ABCC8):c.3763G>A (p.Gly1255Ser) rs1185034563
NM_000352.4(ABCC8):c.3788C>A (p.Ala1263Glu) rs772094360
NM_000352.4(ABCC8):c.3817A>T (p.Arg1273Trp) rs1554906389
NM_000352.4(ABCC8):c.3867+7G>A rs372198547
NM_000352.4(ABCC8):c.3875A>G (p.Asn1292Ser) rs763104338
NM_000352.4(ABCC8):c.3905C>T (p.Ala1302Val) rs1340859533
NM_000352.4(ABCC8):c.3938G>A (p.Arg1313His) rs372153432
NM_000352.4(ABCC8):c.3976G>A (p.Glu1326Lys) rs200563930
NM_000352.4(ABCC8):c.3989-3C>G rs1324242791
NM_000352.4(ABCC8):c.4008G>C (p.Lys1336Asn) rs67767715
NM_000352.4(ABCC8):c.4012T>A (p.Trp1338Arg) rs1554905805
NM_000352.4(ABCC8):c.4028A>T (p.Lys1343Met) rs886039301
NM_000352.4(ABCC8):c.403C>G (p.Leu135Val) rs368450282
NM_000352.4(ABCC8):c.4043A>G (p.Asn1348Ser) rs1554905775
NM_000352.4(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.4(ABCC8):c.4096G>A (p.Ala1366Thr) rs1554905695
NM_000352.4(ABCC8):c.4097C>A (p.Ala1366Asp) rs746811190
NM_000352.4(ABCC8):c.4117_4119del (p.Lys1373del) rs1554905655
NM_000352.4(ABCC8):c.413-15A>G rs758744263
NM_000352.4(ABCC8):c.413-5G>A rs186946111
NM_000352.4(ABCC8):c.4132G>C (p.Gly1378Arg) rs925231098
NM_000352.4(ABCC8):c.4135C>A (p.Arg1379Ser) rs137852673
NM_000352.4(ABCC8):c.4141G>A (p.Gly1381Ser) rs773448052
NM_000352.4(ABCC8):c.4178G>A (p.Arg1393His) rs769279368
NM_000352.4(ABCC8):c.4199-8C>T rs886048048
NM_000352.4(ABCC8):c.4239G>T (p.Pro1413=) rs373478721
NM_000352.4(ABCC8):c.4253G>T (p.Arg1418Leu) rs1446306735
NM_000352.4(ABCC8):c.4268T>G (p.Ile1423Ser)
NM_000352.4(ABCC8):c.4307+13A>C rs886048047
NM_000352.4(ABCC8):c.4314C>T (p.Asn1438=) rs752809991
NM_000352.4(ABCC8):c.4349T>C (p.Leu1450Pro) rs1554904565
NM_000352.4(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271
NM_000352.4(ABCC8):c.4412-14C>T rs193922404
NM_000352.4(ABCC8):c.4431C>T (p.Gly1477=) rs145673861
NM_000352.4(ABCC8):c.4446C>A (p.Ser1482Arg) rs1554904107
NM_000352.4(ABCC8):c.4456_4461del (p.Arg1486_Gln1487del) rs1554904088
NM_000352.4(ABCC8):c.4482C>T (p.Ala1494=) rs374853931
NM_000352.4(ABCC8):c.4563G>C (p.Lys1521Asn) rs142272833
NM_000352.4(ABCC8):c.4563G>T (p.Lys1521Asn) rs142272833
NM_000352.4(ABCC8):c.4588C>T (p.Arg1530Cys) rs148808854
NM_000352.4(ABCC8):c.4591A>C (p.Thr1531Pro) rs796891223
NM_000352.4(ABCC8):c.4605C>T (p.Ile1535=) rs780203284
NM_000352.4(ABCC8):c.4607C>T (p.Ala1536Val) rs745918247
NM_000352.4(ABCC8):c.4608G>A (p.Ala1536=) rs1439464815
NM_000352.4(ABCC8):c.4690A>G (p.Lys1564Glu) rs770317560
NM_000352.4(ABCC8):c.524T>A (p.Leu175Gln) rs1554943599
NM_000352.4(ABCC8):c.536A>G (p.Tyr179Cys) rs919281813
NM_000352.4(ABCC8):c.541A>T (p.Met181Leu) rs368894930
NM_000352.4(ABCC8):c.592_594del (p.Phe198del) rs772409200
NM_000352.4(ABCC8):c.640G>A (p.Gly214Arg)
NM_000352.4(ABCC8):c.647G>A (p.Arg216His)
NM_000352.4(ABCC8):c.686C>T (p.Thr229Ile) rs768017509
NM_000352.4(ABCC8):c.691T>C (p.Trp231Arg) rs1554942704
NM_000352.4(ABCC8):c.793C>T (p.Arg265Trp) rs1057524701
NM_000352.4(ABCC8):c.794G>A (p.Arg265Gln) rs757018137
NM_000352.4(ABCC8):c.806C>T (p.Ala269Val) rs372930264
NM_000352.4(ABCC8):c.823-7T>A rs1554942148
NM_000352.4(ABCC8):c.824G>A (p.Arg275Gln) rs185040406
NM_000352.4(ABCC8):c.853C>T (p.Arg285Trp) rs773087569
NM_000352.4(ABCC8):c.878A>C (p.His293Pro) rs587783175
NM_000352.4(ABCC8):c.886G>A (p.Gly296Arg) rs148529020
NM_000352.4(ABCC8):c.892C>T (p.Arg298Cys)
NM_000352.4(ABCC8):c.917G>A (p.Arg306His) rs1409900082
NM_000352.4(ABCC8):c.926C>G (p.Ala309Gly) rs149347593
NM_000352.4(ABCC8):c.947G>A (p.Gly316Glu) rs797045214
NM_000352.4(ABCC8):c.97G>T (p.Val33Leu) rs768372267
NM_001287174.1(ABCC8):c.1391C>T (p.Ala464Val) rs1554933525
NM_001287174.1(ABCC8):c.1882G>A (p.Glu628Lys)
NM_001287174.1(ABCC8):c.279C>A (p.Ile93=) rs550990673
NM_001287174.1(ABCC8):c.3616G>A (p.Glu1206Lys) rs768448830
NM_001351297.1(ABCC8):c.1060G>A (p.Ala354Thr) rs145136257

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