ClinVar Miner

List of variants in gene ABCC8 studied for Inborn genetic diseases

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Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.330C>T (p.Ala110=) rs8192695 0.06691
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=) rs1801261 0.02724
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=) rs149861153 0.01269
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=) rs113282901 0.00497
NM_000352.6(ABCC8):c.354C>T (p.Val118=) rs137873871 0.00434
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=) rs58820146 0.00381
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=) rs75376282 0.00284
NM_000352.6(ABCC8):c.945C>T (p.Ala315=) rs138521721 0.00173
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427 0.00121
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.1924-17C>T rs117189973 0.00105
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=) rs146156937 0.00103
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) rs117874766 0.00097
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=) rs147623093 0.00083
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.1644G>T (p.Thr548=) rs565996783 0.00019
NM_000352.6(ABCC8):c.3989-9G>A rs151344623 0.00019
NM_000352.6(ABCC8):c.1919C>T (p.Ala640Val) rs369049969 0.00016
NM_000352.6(ABCC8):c.3000C>T (p.Cys1000=) rs192863214 0.00016
NM_000352.6(ABCC8):c.4431C>T (p.Gly1477=) rs145673861 0.00016
NM_000352.6(ABCC8):c.3984C>T (p.Leu1328=) rs368419322 0.00013
NM_000352.6(ABCC8):c.4464G>A (p.Leu1488=) rs374880588 0.00013
NM_000352.6(ABCC8):c.102G>A (p.Val34=) rs189746511 0.00011
NM_000352.6(ABCC8):c.892C>T (p.Arg298Cys) rs144705160 0.00011
NM_000352.6(ABCC8):c.3513C>T (p.Ala1171=) rs778961697 0.00010
NM_000352.6(ABCC8):c.4227C>T (p.Ile1409=) rs146584228 0.00010
NM_000352.6(ABCC8):c.3858C>T (p.Tyr1286=) rs377045545 0.00008
NM_000352.6(ABCC8):c.973G>A (p.Asp325Asn) rs781480098 0.00008
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn) rs531684936 0.00006
NM_000352.6(ABCC8):c.3516C>T (p.Ile1172=) rs142155036 0.00006
NM_000352.6(ABCC8):c.3073G>A (p.Val1025Ile) rs771882862 0.00005
NM_000352.6(ABCC8):c.4482C>T (p.Ala1494=) rs374853931 0.00005
NM_000352.6(ABCC8):c.2041-21G>A rs746714109 0.00004
NM_000352.6(ABCC8):c.4647C>T (p.Ile1549=) rs367862706 0.00004
NM_000352.6(ABCC8):c.4051G>A (p.Val1351Met) rs149331388 0.00003
NM_000352.6(ABCC8):c.1767G>A (p.Pro589=) rs550788491 0.00002
NM_000352.6(ABCC8):c.2178A>G (p.Ala726=) rs747902103 0.00002
NM_000352.6(ABCC8):c.2938G>A (p.Glu980Lys) rs1254230359 0.00002
NM_000352.6(ABCC8):c.702C>T (p.Asn234=) rs758289249 0.00002
NM_000352.6(ABCC8):c.1023C>T (p.Leu341=) rs199592045 0.00001
NM_000352.6(ABCC8):c.3537G>A (p.Lys1179=) rs146574155 0.00001
NM_000352.6(ABCC8):c.3951C>G (p.Leu1317=) rs765708759 0.00001
NM_000352.6(ABCC8):c.4350G>A (p.Leu1450=) rs763277685 0.00001
NM_000352.6(ABCC8):c.4524G>A (p.Thr1508=) rs553746345 0.00001
NM_000352.6(ABCC8):c.48G>A (p.Arg16=) rs750383415 0.00001
NM_000352.6(ABCC8):c.927C>T (p.Ala309=) rs543571996 0.00001
NM_000352.6(ABCC8):c.1142T>C (p.Ile381Thr)
NM_000352.6(ABCC8):c.1366C>T (p.Leu456Phe)
NM_000352.6(ABCC8):c.1432G>T (p.Ala478Ser)
NM_000352.6(ABCC8):c.157A>G (p.Ser53Gly)
NM_000352.6(ABCC8):c.1630+1G>A
NM_000352.6(ABCC8):c.1634del (p.Phe545fs) rs1260178539
NM_000352.6(ABCC8):c.1788G>T (p.Val596=) rs1371996539
NM_000352.6(ABCC8):c.1962G>A (p.Glu654=)
NM_000352.6(ABCC8):c.2030G>A (p.Cys677Tyr)
NM_000352.6(ABCC8):c.2082C>G (p.Pro694=)
NM_000352.6(ABCC8):c.2120A>C (p.Gln707Pro)
NM_000352.6(ABCC8):c.2181G>A (p.Leu727=)
NM_000352.6(ABCC8):c.222G>A (p.Arg74=) rs745544561
NM_000352.6(ABCC8):c.2264G>A (p.Arg755Gln)
NM_000352.6(ABCC8):c.2603T>C (p.Met868Thr)
NM_000352.6(ABCC8):c.2888A>T (p.Asp963Val)
NM_000352.6(ABCC8):c.289G>A (p.Gly97Arg)
NM_000352.6(ABCC8):c.2975G>C (p.Arg992Pro) rs201499958
NM_000352.6(ABCC8):c.3015C>T (p.Ser1005=)
NM_000352.6(ABCC8):c.3098T>C (p.Leu1033Pro)
NM_000352.6(ABCC8):c.3289C>T (p.His1097Tyr)
NM_000352.6(ABCC8):c.3307C>A (p.Arg1103=)
NM_000352.6(ABCC8):c.3326T>G (p.Met1109Arg)
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) rs371089976
NM_000352.6(ABCC8):c.3461C>T (p.Ala1154Val)
NM_000352.6(ABCC8):c.3490C>T (p.Leu1164Phe)
NM_000352.6(ABCC8):c.3511G>A (p.Ala1171Thr)
NM_000352.6(ABCC8):c.3514A>G (p.Ile1172Val)
NM_000352.6(ABCC8):c.3535A>G (p.Lys1179Glu)
NM_000352.6(ABCC8):c.371A>G (p.Tyr124Cys)
NM_000352.6(ABCC8):c.3788C>A (p.Ala1263Glu) rs772094360
NM_000352.6(ABCC8):c.3978G>A (p.Glu1326=)
NM_000352.6(ABCC8):c.3995C>T (p.Ser1332Leu)
NM_000352.6(ABCC8):c.4078G>A (p.Val1360Met) rs1953962707
NM_000352.6(ABCC8):c.4099C>T (p.Leu1367Phe)
NM_000352.6(ABCC8):c.413-5G>A rs186946111
NM_000352.6(ABCC8):c.4239G>A (p.Pro1413=) rs373478721
NM_000352.6(ABCC8):c.4242G>A (p.Leu1414=)
NM_000352.6(ABCC8):c.432C>T (p.Thr144=)
NM_000352.6(ABCC8):c.4400C>T (p.Pro1467Leu)
NM_000352.6(ABCC8):c.4406G>A (p.Gly1469Asp)
NM_000352.6(ABCC8):c.4C>T (p.Pro2Ser) rs756552692
NM_000352.6(ABCC8):c.602C>A (p.Pro201Gln)
NM_000352.6(ABCC8):c.621C>A (p.Pro207=) rs765043940
NM_000352.6(ABCC8):c.622G>T (p.Glu208Ter)
NM_000352.6(ABCC8):c.639G>A (p.Leu213=) rs1483834388
NM_000352.6(ABCC8):c.689A>G (p.Tyr230Cys)
NM_000352.6(ABCC8):c.854G>A (p.Arg285Gln)
NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys)
NM_000352.6(ABCC8):c.949C>A (p.Pro317Thr)

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