ClinVar Miner

List of variants in gene ABCA2 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 216
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HGVS dbSNP gnomAD frequency
NM_001606.5(ABCA2):c.7181G>A (p.Arg2394Gln) rs55971316 0.00074
NM_001606.5(ABCA2):c.404C>T (p.Pro135Leu) rs201232193 0.00064
NM_001606.5(ABCA2):c.1099G>A (p.Ala367Thr) rs367552369 0.00031
NM_001606.5(ABCA2):c.6893G>A (p.Arg2298Gln) rs374853474 0.00012
NM_001606.5(ABCA2):c.5066G>A (p.Arg1689His) rs200032463 0.00010
NM_001606.5(ABCA2):c.4177G>A (p.Val1393Ile) rs188524718 0.00009
NM_001606.5(ABCA2):c.2309C>T (p.Ala770Val) rs144972341 0.00008
NM_001606.5(ABCA2):c.6538G>A (p.Ala2180Thr) rs374618311 0.00008
NM_001606.5(ABCA2):c.7297G>A (p.Asp2433Asn) rs771105113 0.00008
NM_001606.5(ABCA2):c.1471C>G (p.Gln491Glu) rs377220332 0.00007
NM_001606.5(ABCA2):c.4709G>A (p.Arg1570Gln) rs570738718 0.00007
NM_001606.5(ABCA2):c.4990C>T (p.Arg1664Trp) rs779765877 0.00007
NM_001606.5(ABCA2):c.7175G>A (p.Arg2392Gln) rs547600750 0.00007
NM_001606.5(ABCA2):c.785A>G (p.Gln262Arg) rs746255946 0.00007
NM_001606.5(ABCA2):c.1625G>C (p.Arg542Thr) rs369680440 0.00006
NM_001606.5(ABCA2):c.3301C>T (p.Arg1101Cys) rs771747170 0.00006
NM_001606.5(ABCA2):c.4181A>G (p.Tyr1394Cys) rs537366227 0.00006
NM_001606.5(ABCA2):c.4186G>A (p.Asp1396Asn) rs765410202 0.00006
NM_001606.5(ABCA2):c.4934C>T (p.Ala1645Val) rs762067339 0.00006
NM_001606.5(ABCA2):c.746G>A (p.Arg249Gln) rs752675380 0.00006
NM_001606.5(ABCA2):c.1571G>A (p.Arg524Gln) rs376668222 0.00005
NM_001606.5(ABCA2):c.3460G>A (p.Val1154Met) rs376990200 0.00005
NM_001606.5(ABCA2):c.4651G>A (p.Gly1551Ser) rs376177227 0.00005
NM_001606.5(ABCA2):c.4919G>A (p.Arg1640His) rs1052489775 0.00005
NM_001606.5(ABCA2):c.884A>G (p.Lys295Arg) rs556418656 0.00005
NM_001606.5(ABCA2):c.1124C>A (p.Ala375Glu) rs757772673 0.00004
NM_001606.5(ABCA2):c.2860C>T (p.Arg954Cys) rs546363333 0.00004
NM_001606.5(ABCA2):c.2890G>A (p.Asp964Asn) rs186322388 0.00004
NM_001606.5(ABCA2):c.4148G>A (p.Arg1383His) rs772864842 0.00004
NM_001606.5(ABCA2):c.6467G>A (p.Arg2156His) rs367589587 0.00004
NM_001606.5(ABCA2):c.1126G>A (p.Val376Ile) rs752180256 0.00003
NM_001606.5(ABCA2):c.172A>G (p.Thr58Ala) rs773010162 0.00003
NM_001606.5(ABCA2):c.2668G>A (p.Asp890Asn) rs757517721 0.00003
NM_001606.5(ABCA2):c.3145G>A (p.Ala1049Thr) rs769630364 0.00003
NM_001606.5(ABCA2):c.3676G>A (p.Ala1226Thr) rs772985275 0.00003
NM_001606.5(ABCA2):c.4991G>A (p.Arg1664Gln) rs368298037 0.00003
NM_001606.5(ABCA2):c.7174C>T (p.Arg2392Trp) rs570802164 0.00003
NM_001606.5(ABCA2):c.1292G>A (p.Arg431Gln) rs199687476 0.00002
NM_001606.5(ABCA2):c.179C>T (p.Ala60Val) rs370257651 0.00002
NM_001606.5(ABCA2):c.2915G>A (p.Arg972Gln) rs778837359 0.00002
NM_001606.5(ABCA2):c.4153G>A (p.Asp1385Asn) rs773928914 0.00002
NM_001606.5(ABCA2):c.4156G>A (p.Glu1386Lys) rs748733126 0.00002
NM_001606.5(ABCA2):c.4643C>T (p.Pro1548Leu) rs572276239 0.00002
NM_001606.5(ABCA2):c.4880C>T (p.Ser1627Leu) rs749362777 0.00002
NM_001606.5(ABCA2):c.5107G>A (p.Val1703Ile) rs754026915 0.00002
NM_001606.5(ABCA2):c.5524G>A (p.Val1842Met) rs1307898282 0.00002
NM_001606.5(ABCA2):c.6271G>A (p.Gly2091Ser) rs567155142 0.00002
NM_001606.5(ABCA2):c.6548C>T (p.Pro2183Leu) rs992934331 0.00002
NM_001606.5(ABCA2):c.7067A>G (p.Asn2356Ser) rs376935835 0.00002
NM_001606.5(ABCA2):c.7135G>A (p.Ala2379Thr) rs747556577 0.00002
NM_001606.5(ABCA2):c.7204G>A (p.Ala2402Thr) rs537956669 0.00002
NM_001606.5(ABCA2):c.941C>T (p.Ala314Val) rs890852182 0.00002
NM_001606.5(ABCA2):c.1187C>T (p.Pro396Leu) rs745512312 0.00001
NM_001606.5(ABCA2):c.1432G>A (p.Glu478Lys) rs1034368607 0.00001
NM_001606.5(ABCA2):c.1798G>C (p.Asp600His) rs2491541161 0.00001
NM_001606.5(ABCA2):c.1946A>G (p.Asn649Ser) rs373480933 0.00001
NM_001606.5(ABCA2):c.2272T>G (p.Phe758Val) rs1831309086 0.00001
NM_001606.5(ABCA2):c.2630A>G (p.Gln877Arg) rs568435680 0.00001
NM_001606.5(ABCA2):c.2864C>T (p.Thr955Ile) rs1831268828 0.00001
NM_001606.5(ABCA2):c.2995G>A (p.Val999Ile) rs770030911 0.00001
NM_001606.5(ABCA2):c.3173C>T (p.Thr1058Met) rs376153765 0.00001
NM_001606.5(ABCA2):c.3190C>T (p.Arg1064Cys) rs755353596 0.00001
NM_001606.5(ABCA2):c.3349C>T (p.Arg1117Trp) rs1195370052 0.00001
NM_001606.5(ABCA2):c.3470A>G (p.Tyr1157Cys) rs1224686831 0.00001
NM_001606.5(ABCA2):c.3479G>A (p.Arg1160His) rs377033370 0.00001
NM_001606.5(ABCA2):c.364G>A (p.Glu122Lys) rs773654293 0.00001
NM_001606.5(ABCA2):c.3671G>A (p.Arg1224Gln) rs752797584 0.00001
NM_001606.5(ABCA2):c.3767A>T (p.Gln1256Leu) rs368749276 0.00001
NM_001606.5(ABCA2):c.4355G>A (p.Arg1452His) rs868304427 0.00001
NM_001606.5(ABCA2):c.4408T>G (p.Cys1470Gly) rs373123212 0.00001
NM_001606.5(ABCA2):c.4505G>A (p.Arg1502His) rs755244581 0.00001
NM_001606.5(ABCA2):c.4574G>A (p.Ser1525Asn) rs766243334 0.00001
NM_001606.5(ABCA2):c.4876A>T (p.Thr1626Ser) rs1175231668 0.00001
NM_001606.5(ABCA2):c.4877C>T (p.Thr1626Met) rs774502181 0.00001
NM_001606.5(ABCA2):c.5143G>T (p.Ala1715Ser) rs1461882681 0.00001
NM_001606.5(ABCA2):c.5153T>C (p.Met1718Thr) rs776287704 0.00001
NM_001606.5(ABCA2):c.6496G>A (p.Val2166Met) rs752333309 0.00001
NM_001606.5(ABCA2):c.6934C>T (p.Arg2312Trp) rs1173530564 0.00001
NM_001606.5(ABCA2):c.6943A>G (p.Thr2315Ala) rs758029250 0.00001
NM_001606.5(ABCA2):c.7075G>A (p.Val2359Met) rs1283555204 0.00001
NM_001606.5(ABCA2):c.7190C>T (p.Pro2397Leu) rs772397149 0.00001
NM_001606.5(ABCA2):c.7240G>A (p.Glu2414Lys) rs1227050658 0.00001
NM_001606.5(ABCA2):c.7247A>G (p.Glu2416Gly) rs370107877 0.00001
NM_001606.5(ABCA2):c.7277C>T (p.Ala2426Val) rs1437056568 0.00001
NM_001606.5(ABCA2):c.824C>T (p.Ala275Val) rs1238610607 0.00001
NM_001606.5(ABCA2):c.826C>T (p.Arg276Cys) rs747369900 0.00001
NM_001606.5(ABCA2):c.851C>G (p.Ser284Cys) rs201265841 0.00001
NM_001606.5(ABCA2):c.1047G>C (p.Gln349His)
NM_001606.5(ABCA2):c.1048G>A (p.Gly350Ser)
NM_001606.5(ABCA2):c.1063C>T (p.Arg355Trp)
NM_001606.5(ABCA2):c.1081G>A (p.Ala361Thr)
NM_001606.5(ABCA2):c.1218C>G (p.Phe406Leu)
NM_001606.5(ABCA2):c.122G>C (p.Gly41Ala)
NM_001606.5(ABCA2):c.1339C>G (p.Leu447Val) rs2538187858
NM_001606.5(ABCA2):c.1414G>A (p.Val472Ile)
NM_001606.5(ABCA2):c.1502G>A (p.Arg501His)
NM_001606.5(ABCA2):c.1634A>G (p.Asn545Ser) rs977729664
NM_001606.5(ABCA2):c.1715T>C (p.Met572Thr)
NM_001606.5(ABCA2):c.1729G>A (p.Val577Met)
NM_001606.5(ABCA2):c.173C>G (p.Thr58Arg)
NM_001606.5(ABCA2):c.1837C>G (p.Arg613Gly) rs773884091
NM_001606.5(ABCA2):c.1838G>A (p.Arg613Gln)
NM_001606.5(ABCA2):c.1845C>G (p.Asp615Glu) rs563442914
NM_001606.5(ABCA2):c.1855C>T (p.Pro619Ser) rs779705118
NM_001606.5(ABCA2):c.1856C>G (p.Pro619Arg)
NM_001606.5(ABCA2):c.1903A>G (p.Lys635Glu) rs751014552
NM_001606.5(ABCA2):c.1907C>G (p.Thr636Ser)
NM_001606.5(ABCA2):c.1981G>A (p.Val661Ile) rs1258302996
NM_001606.5(ABCA2):c.2124G>A (p.Met708Ile)
NM_001606.5(ABCA2):c.2371G>A (p.Ala791Thr)
NM_001606.5(ABCA2):c.2463C>G (p.Ile821Met) rs760785729
NM_001606.5(ABCA2):c.2695A>G (p.Met899Val)
NM_001606.5(ABCA2):c.2696T>C (p.Met899Thr) rs1430073421
NM_001606.5(ABCA2):c.2713G>A (p.Val905Met) rs771555965
NM_001606.5(ABCA2):c.2750T>C (p.Val917Ala) rs2491531972
NM_001606.5(ABCA2):c.2857G>A (p.Ala953Thr)
NM_001606.5(ABCA2):c.2861G>A (p.Arg954His) rs762702619
NM_001606.5(ABCA2):c.2917C>T (p.Arg973Cys)
NM_001606.5(ABCA2):c.2918G>A (p.Arg973His)
NM_001606.5(ABCA2):c.2933G>A (p.Arg978His) rs1831262664
NM_001606.5(ABCA2):c.2954C>T (p.Thr985Ile) rs956880367
NM_001606.5(ABCA2):c.296G>A (p.Arg99His)
NM_001606.5(ABCA2):c.3007G>A (p.Asp1003Asn)
NM_001606.5(ABCA2):c.304C>T (p.Arg102Cys)
NM_001606.5(ABCA2):c.3226C>T (p.Leu1076Phe) rs2491527152
NM_001606.5(ABCA2):c.3238C>T (p.Leu1080Phe)
NM_001606.5(ABCA2):c.3283A>G (p.Met1095Val)
NM_001606.5(ABCA2):c.3311T>C (p.Met1104Thr)
NM_001606.5(ABCA2):c.3389G>A (p.Arg1130His) rs777797254
NM_001606.5(ABCA2):c.3415G>T (p.Val1139Leu) rs1831236960
NM_001606.5(ABCA2):c.3455C>T (p.Ala1152Val) rs923209488
NM_001606.5(ABCA2):c.3541C>A (p.His1181Asn) rs2491524381
NM_001606.5(ABCA2):c.3683C>T (p.Pro1228Leu)
NM_001606.5(ABCA2):c.3686G>A (p.Gly1229Glu)
NM_001606.5(ABCA2):c.3689G>A (p.Gly1230Asp) rs551366222
NM_001606.5(ABCA2):c.3727C>T (p.Arg1243Trp) rs757119666
NM_001606.5(ABCA2):c.3779A>G (p.Lys1260Arg)
NM_001606.5(ABCA2):c.3845A>G (p.Glu1282Gly)
NM_001606.5(ABCA2):c.3850G>A (p.Ala1284Thr) rs772704029
NM_001606.5(ABCA2):c.3862G>T (p.Ala1288Ser) rs748705066
NM_001606.5(ABCA2):c.3897C>A (p.Ser1299Arg)
NM_001606.5(ABCA2):c.4020G>T (p.Arg1340Ser)
NM_001606.5(ABCA2):c.4057G>T (p.Gly1353Trp) rs372897435
NM_001606.5(ABCA2):c.4069G>A (p.Ala1357Thr) rs764315344
NM_001606.5(ABCA2):c.4120C>G (p.Gln1374Glu) rs2491517889
NM_001606.5(ABCA2):c.4133C>T (p.Ser1378Phe)
NM_001606.5(ABCA2):c.4145C>T (p.Ala1382Val)
NM_001606.5(ABCA2):c.4147C>T (p.Arg1383Cys) rs752882542
NM_001606.5(ABCA2):c.4160G>A (p.Gly1387Glu)
NM_001606.5(ABCA2):c.4192C>A (p.Arg1398Ser)
NM_001606.5(ABCA2):c.4196C>T (p.Pro1399Leu) rs375992232
NM_001606.5(ABCA2):c.4209C>A (p.Asn1403Lys)
NM_001606.5(ABCA2):c.4243G>A (p.Val1415Met)
NM_001606.5(ABCA2):c.4270G>A (p.Gly1424Ser)
NM_001606.5(ABCA2):c.4282C>T (p.Arg1428Cys) rs376746889
NM_001606.5(ABCA2):c.4283G>A (p.Arg1428His) rs200759130
NM_001606.5(ABCA2):c.4286A>G (p.Lys1429Arg) rs2491516267
NM_001606.5(ABCA2):c.4301G>T (p.Trp1434Leu) rs2491516201
NM_001606.5(ABCA2):c.4312C>G (p.Arg1438Gly)
NM_001606.5(ABCA2):c.4324G>A (p.Gly1442Arg)
NM_001606.5(ABCA2):c.4435G>A (p.Val1479Ile)
NM_001606.5(ABCA2):c.4460C>T (p.Pro1487Leu)
NM_001606.5(ABCA2):c.4525G>A (p.Ala1509Thr)
NM_001606.5(ABCA2):c.4543G>A (p.Glu1515Lys) rs1389978024
NM_001606.5(ABCA2):c.4556G>A (p.Arg1519Gln)
NM_001606.5(ABCA2):c.4567G>A (p.Asp1523Asn)
NM_001606.5(ABCA2):c.4571C>T (p.Ala1524Val) rs2491512447
NM_001606.5(ABCA2):c.4624A>C (p.Thr1542Pro)
NM_001606.5(ABCA2):c.4691C>T (p.Ser1564Leu) rs550140163
NM_001606.5(ABCA2):c.4700T>A (p.Leu1567Gln) rs937888620
NM_001606.5(ABCA2):c.4702G>T (p.Ala1568Ser) rs1831127018
NM_001606.5(ABCA2):c.4742C>T (p.Thr1581Ile) rs2491511634
NM_001606.5(ABCA2):c.4774C>T (p.Pro1592Ser) rs1183133129
NM_001606.5(ABCA2):c.481G>A (p.Glu161Lys) rs2131467139
NM_001606.5(ABCA2):c.4858G>A (p.Ala1620Thr)
NM_001606.5(ABCA2):c.4889C>G (p.Ser1630Cys)
NM_001606.5(ABCA2):c.4897C>T (p.Arg1633Cys)
NM_001606.5(ABCA2):c.4910A>C (p.Glu1637Ala) rs2491510415
NM_001606.5(ABCA2):c.4952C>T (p.Ser1651Phe) rs2491510190
NM_001606.5(ABCA2):c.4973G>A (p.Gly1658Glu)
NM_001606.5(ABCA2):c.5135G>A (p.Gly1712Asp)
NM_001606.5(ABCA2):c.526A>G (p.Thr176Ala)
NM_001606.5(ABCA2):c.532C>G (p.Gln178Glu)
NM_001606.5(ABCA2):c.5338G>A (p.Ala1780Thr)
NM_001606.5(ABCA2):c.547G>T (p.Ala183Ser) rs753980203
NM_001606.5(ABCA2):c.5603C>T (p.Thr1868Met)
NM_001606.5(ABCA2):c.5609C>T (p.Pro1870Leu) rs2491503249
NM_001606.5(ABCA2):c.5633C>T (p.Ser1878Phe)
NM_001606.5(ABCA2):c.565G>A (p.Glu189Lys)
NM_001606.5(ABCA2):c.589C>G (p.Pro197Ala)
NM_001606.5(ABCA2):c.590C>A (p.Pro197His)
NM_001606.5(ABCA2):c.6200G>C (p.Arg2067Pro) rs373061291
NM_001606.5(ABCA2):c.6323C>T (p.Thr2108Met) rs1404705070
NM_001606.5(ABCA2):c.6385A>T (p.Ser2129Cys)
NM_001606.5(ABCA2):c.6436C>T (p.Arg2146Trp) rs559341917
NM_001606.5(ABCA2):c.6476C>T (p.Ser2159Phe)
NM_001606.5(ABCA2):c.655G>T (p.Gly219Cys) rs1304700962
NM_001606.5(ABCA2):c.6565G>A (p.Gly2189Ser)
NM_001606.5(ABCA2):c.6617C>T (p.Ala2206Val) rs1005414934
NM_001606.5(ABCA2):c.664C>G (p.Leu222Val)
NM_001606.5(ABCA2):c.6694C>T (p.Leu2232Phe) rs2491491996
NM_001606.5(ABCA2):c.6730C>T (p.His2244Tyr)
NM_001606.5(ABCA2):c.6868A>G (p.Ser2290Gly) rs1242555147
NM_001606.5(ABCA2):c.6896T>G (p.Phe2299Cys) rs2491488115
NM_001606.5(ABCA2):c.691G>C (p.Ala231Pro)
NM_001606.5(ABCA2):c.6935G>A (p.Arg2312Gln)
NM_001606.5(ABCA2):c.6953A>G (p.Gln2318Arg) rs1323293100
NM_001606.5(ABCA2):c.697G>A (p.Ala233Thr)
NM_001606.5(ABCA2):c.7153G>C (p.Gly2385Arg) rs748366859
NM_001606.5(ABCA2):c.7232T>G (p.Leu2411Arg) rs1019764433
NM_001606.5(ABCA2):c.736G>C (p.Glu246Gln) rs747246369
NM_001606.5(ABCA2):c.745C>T (p.Arg249Trp)
NM_001606.5(ABCA2):c.835C>A (p.Arg279Ser)
NM_001606.5(ABCA2):c.835C>T (p.Arg279Cys) rs373960597
NM_001606.5(ABCA2):c.931T>G (p.Ser311Ala)
NM_001606.5(ABCA2):c.965C>T (p.Ala322Val)

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