ClinVar Miner

List of variants in gene ABCC8 reported as uncertain significance for Hereditary hyperinsulinism

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Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655 0.00116
NM_000352.6(ABCC8):c.4656G>A (p.Lys1552=) rs145386421 0.00115
NM_000352.6(ABCC8):c.1630+10C>T rs188075767 0.00098
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) rs117874766 0.00097
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.1923+3G>A rs374869130 0.00028
NM_000352.6(ABCC8):c.3111C>T (p.Thr1037=) rs201662945 0.00026
NM_000352.6(ABCC8):c.105G>A (p.Pro35=) rs199925058 0.00024
NM_000352.6(ABCC8):c.1644G>T (p.Thr548=) rs565996783 0.00019
NM_000352.6(ABCC8):c.1919C>T (p.Ala640Val) rs369049969 0.00016
NM_000352.6(ABCC8):c.3399+12C>T rs372561049 0.00016
NM_000352.6(ABCC8):c.4412-14C>T rs193922404 0.00016
NM_000352.6(ABCC8):c.1818-6G>A rs368708177 0.00013
NM_000352.6(ABCC8):c.3984C>T (p.Leu1328=) rs368419322 0.00013
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.4227C>T (p.Ile1409=) rs146584228 0.00010
NM_000352.6(ABCC8):c.2544C>T (p.Asn848=) rs144200345 0.00009
NM_000352.6(ABCC8):c.3413C>T (p.Thr1138Met) rs201351976 0.00008
NM_000352.6(ABCC8):c.1457G>A (p.Arg486Gln) rs376080397 0.00007
NM_000352.6(ABCC8):c.2222+12A>G rs534103042 0.00006
NM_000352.6(ABCC8):c.3329+7G>A rs776313489 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.3073G>A (p.Val1025Ile) rs771882862 0.00005
NM_000352.6(ABCC8):c.692G>C (p.Trp231Ser) rs1057517139 0.00005
NM_000352.6(ABCC8):c.1536C>T (p.Tyr512=) rs765090096 0.00004
NM_000352.6(ABCC8):c.1924-10C>T rs200823913 0.00004
NM_000352.6(ABCC8):c.3558-7G>A rs900191703 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.604A>T (p.Arg202Trp) rs751446018 0.00004
NM_000352.6(ABCC8):c.942C>T (p.Phe314=) rs768582290 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.1407A>C (p.Leu469=) rs751643248 0.00003
NM_000352.6(ABCC8):c.3308G>A (p.Arg1103Gln) rs765913448 0.00003
NM_000352.6(ABCC8):c.3439C>T (p.Leu1147=) rs372257088 0.00003
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=) rs540122589 0.00003
NM_000352.6(ABCC8):c.3918C>G (p.Leu1306=) rs372186045 0.00003
NM_000352.6(ABCC8):c.794G>A (p.Arg265Gln) rs757018137 0.00003
NM_000352.6(ABCC8):c.822+3C>T rs370697909 0.00003
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.3960C>T (p.Thr1320=) rs137868047 0.00002
NM_000352.6(ABCC8):c.4104C>T (p.Ile1368=) rs1345535328 0.00002
NM_000352.6(ABCC8):c.4581C>T (p.Phe1527=) rs773042150 0.00002
NM_000352.6(ABCC8):c.890G>A (p.Arg297Lys) rs371802112 0.00002
NM_000352.6(ABCC8):c.1095C>T (p.Ala365=) rs1256418853 0.00001
NM_000352.6(ABCC8):c.1412C>T (p.Ala471Val) rs780283224 0.00001
NM_000352.6(ABCC8):c.1483C>T (p.Arg495Trp) rs775894336 0.00001
NM_000352.6(ABCC8):c.1512C>T (p.Arg504=) rs148811815 0.00001
NM_000352.6(ABCC8):c.1666C>T (p.Leu556Phe) rs1362268812 0.00001
NM_000352.6(ABCC8):c.170A>G (p.Lys57Arg) rs762919223 0.00001
NM_000352.6(ABCC8):c.2209G>A (p.Val737Ile) rs376206979 0.00001
NM_000352.6(ABCC8):c.2556+9A>C rs1954870052 0.00001
NM_000352.6(ABCC8):c.255G>A (p.Leu85=) rs1323334420 0.00001
NM_000352.6(ABCC8):c.2753G>A (p.Arg918Lys) rs748585974 0.00001
NM_000352.6(ABCC8):c.279C>A (p.Ile93=) rs550990673 0.00001
NM_000352.6(ABCC8):c.3493G>A (p.Val1165Met) rs769818698 0.00001
NM_000352.6(ABCC8):c.3654T>C (p.Tyr1218=) rs769968875 0.00001
NM_000352.6(ABCC8):c.3661C>T (p.Arg1221Trp) rs567382793 0.00001
NM_000352.6(ABCC8):c.4119+10C>T rs201955628 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.4285G>A (p.Val1429Ile) rs755577144 0.00001
NM_000352.6(ABCC8):c.4296C>T (p.Ser1432=) rs752222583 0.00001
NM_000352.6(ABCC8):c.4713C>T (p.Ser1571=) rs747402972 0.00001
NM_000352.6(ABCC8):c.487G>A (p.Gly163Ser) rs574487898 0.00001
NM_000352.6(ABCC8):c.793C>T (p.Arg265Trp) rs1057524701 0.00001
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) rs148529020 0.00001
NM_000352.6(ABCC8):c.1024G>A (p.Gly342Arg) rs763028380
NM_000352.6(ABCC8):c.1178C>T (p.Thr393Ile) rs377104807
NM_000352.6(ABCC8):c.1261G>A (p.Val421Ile) rs1591846104
NM_000352.6(ABCC8):c.1269C>A (p.Ile423=) rs370169777
NM_000352.6(ABCC8):c.1433C>G (p.Ala478Gly) rs1956392066
NM_000352.6(ABCC8):c.148+4A>T rs763159607
NM_000352.6(ABCC8):c.1672-20A>T rs931436550
NM_000352.6(ABCC8):c.1833C>A (p.Ser611Arg) rs763273046
NM_000352.6(ABCC8):c.1849G>A (p.Ala617Thr) rs1955706366
NM_000352.6(ABCC8):c.2041-12C>T rs201419039
NM_000352.6(ABCC8):c.2259A>G (p.Pro753=) rs1955020359
NM_000352.6(ABCC8):c.2285A>C (p.Asp762Ala) rs771942551
NM_000352.6(ABCC8):c.2538C>A (p.His846Gln) rs73423037
NM_000352.6(ABCC8):c.2574T>C (p.Ala858=) rs1954764675
NM_000352.6(ABCC8):c.2648T>G (p.Val883Gly) rs1954760501
NM_000352.6(ABCC8):c.2869C>G (p.Arg957Gly) rs761160857
NM_000352.6(ABCC8):c.3147C>A (p.Asn1049Lys) rs1317881086
NM_000352.6(ABCC8):c.3172C>T (p.Leu1058Phe) rs1954549447
NM_000352.6(ABCC8):c.3502T>C (p.Leu1168=) rs565968675
NM_000352.6(ABCC8):c.3649A>G (p.Arg1217Gly) rs770028071
NM_000352.6(ABCC8):c.3650+4C>G rs374315114
NM_000352.6(ABCC8):c.3651-4C>G rs1954058406
NM_000352.6(ABCC8):c.3988+19G>C rs576340695
NM_000352.6(ABCC8):c.4028A>T (p.Lys1343Met) rs886039301
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.6(ABCC8):c.4124G>C (p.Gly1375Ala) rs1953901271
NM_000352.6(ABCC8):c.4203C>T (p.His1401=) rs1953885229
NM_000352.6(ABCC8):c.4281C>T (p.Asp1427=) rs1334003978
NM_000352.6(ABCC8):c.4527T>G (p.Ala1509=) rs1953787387
NM_000352.6(ABCC8):c.4545+4G>A rs760433463
NM_000352.6(ABCC8):c.4591A>C (p.Thr1531Pro) rs796891223
NM_000352.6(ABCC8):c.508T>G (p.Cys170Gly) rs1847954058
NM_000352.6(ABCC8):c.640G>A (p.Gly214Arg) rs1274656446
NM_000352.6(ABCC8):c.881C>A (p.Ala294Asp) rs1957153674

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