ClinVar Miner

List of variants in gene ANK1 reported as uncertain significance for anemia

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 254
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000037.4(ANK1):c.-204C>G rs117184692 0.00514
NM_000037.4(ANK1):c.*8C>A rs146341756 0.00209
NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr) rs35797405 0.00170
NM_000037.4(ANK1):c.997G>A (p.Asp333Asn) rs147608206 0.00119
NM_000037.4(ANK1):c.1387G>A (p.Val463Ile) rs140085544 0.00105
NM_000037.4(ANK1):c.*2123G>T rs560472367 0.00089
NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys) rs142626656 0.00067
NM_000037.4(ANK1):c.*665C>T rs547095997 0.00063
NM_000037.4(ANK1):c.*2281C>T rs545505994 0.00048
NM_000037.4(ANK1):c.4156T>C (p.Tyr1386His) rs201439151 0.00041
NM_000037.4(ANK1):c.2167C>A (p.His723Asn) rs150899388 0.00039
NM_000037.4(ANK1):c.1337G>C (p.Arg446Thr) rs142010751 0.00038
NM_000037.4(ANK1):c.*701C>T rs546029986 0.00035
NM_000037.4(ANK1):c.229-11A>G rs372152994 0.00035
NM_000037.4(ANK1):c.327+3A>G rs374296178 0.00035
NM_000037.4(ANK1):c.1194C>T (p.Asp398=) rs148471199 0.00030
NM_000037.4(ANK1):c.1503C>T (p.Thr501=) rs145793923 0.00029
NM_000037.4(ANK1):c.3984+9A>G rs369984591 0.00029
NM_000037.4(ANK1):c.876G>A (p.Leu292=) rs373060967 0.00026
NM_000037.4(ANK1):c.2713G>A (p.Val905Met) rs141069023 0.00024
NM_000037.4(ANK1):c.3298G>A (p.Val1100Ile) rs147741842 0.00023
NM_000037.4(ANK1):c.3229G>C (p.Gly1077Arg) rs200263785 0.00022
NM_000037.4(ANK1):c.*32G>A rs117166178 0.00021
NM_000037.4(ANK1):c.669G>A (p.Gln223=) rs375060699 0.00021
NM_000037.4(ANK1):c.*385G>T rs1343502294 0.00020
NM_000037.4(ANK1):c.2096G>A (p.Arg699Gln) rs150032875 0.00020
NM_000037.4(ANK1):c.*1952G>A rs886062931 0.00019
NM_000037.4(ANK1):c.3533-10G>A rs374510116 0.00019
NM_000037.4(ANK1):c.3955C>T (p.Arg1319Trp) rs113948846 0.00019
NM_000037.4(ANK1):c.3282G>A (p.Thr1094=) rs144821829 0.00016
NM_000037.4(ANK1):c.5376C>T (p.Thr1792=) rs147232364 0.00016
NM_000037.4(ANK1):c.*795A>G rs191346232 0.00014
NM_000037.4(ANK1):c.4341T>C (p.Ser1447=) rs112677283 0.00014
NM_000037.4(ANK1):c.5045G>A (p.Arg1682Gln) rs140231188 0.00014
NM_000037.4(ANK1):c.5601G>A (p.Ala1867=) rs150975400 0.00014
NM_000037.4(ANK1):c.5614C>T (p.Arg1872Trp) rs145235970 0.00014
NM_000037.4(ANK1):c.3234C>T (p.Pro1078=) rs755219802 0.00011
NM_000037.4(ANK1):c.3288G>A (p.Pro1096=) rs140964621 0.00011
NM_000037.4(ANK1):c.3984+12C>T rs200019819 0.00011
NM_000037.4(ANK1):c.2389-10C>T rs764935260 0.00010
NM_000037.4(ANK1):c.1926C>T (p.Ala642=) rs534680895 0.00009
NM_000037.4(ANK1):c.3652C>T (p.Arg1218Trp) rs142542271 0.00009
NM_000037.4(ANK1):c.4136C>T (p.Pro1379Leu) rs748160803 0.00009
NM_000037.4(ANK1):c.*1603C>G rs746821020 0.00008
NM_000037.4(ANK1):c.*31C>T rs371773460 0.00008
NM_000037.4(ANK1):c.1859G>A (p.Ser620Asn) rs750068521 0.00008
NM_000037.4(ANK1):c.*372T>C rs1042068456 0.00007
NM_000037.4(ANK1):c.1535G>A (p.Arg512His) rs371259018 0.00007
NM_000037.4(ANK1):c.5208T>A (p.Ser1736Arg) rs750580242 0.00007
NM_000037.4(ANK1):c.1628C>T (p.Ala543Val) rs369233964 0.00006
NM_000037.4(ANK1):c.3443G>A (p.Arg1148Gln) rs771237247 0.00006
NM_000037.4(ANK1):c.4105-5T>G rs768183148 0.00006
NM_000037.4(ANK1):c.4607G>A (p.Arg1536His) rs767213092 0.00006
NM_000037.4(ANK1):c.5051C>T (p.Thr1684Ile) rs376601712 0.00006
NM_000037.4(ANK1):c.909+9T>C rs756182531 0.00006
NM_000037.4(ANK1):c.*1412G>A rs987022893 0.00005
NM_000037.4(ANK1):c.1197G>A (p.Ala399=) rs756075877 0.00005
NM_000037.4(ANK1):c.1521G>A (p.Leu507=) rs374623408 0.00005
NM_000037.4(ANK1):c.3941A>C (p.His1314Pro) rs753586006 0.00005
NM_000037.4(ANK1):c.5061C>G (p.Pro1687=) rs751121091 0.00005
NM_000037.4(ANK1):c.1441G>A (p.Gly481Ser) rs201980785 0.00004
NM_000037.4(ANK1):c.1638C>T (p.Tyr546=) rs771419825 0.00004
NM_000037.4(ANK1):c.2601T>C (p.Pro867=) rs540851221 0.00004
NM_000037.4(ANK1):c.2760C>T (p.Asp920=) rs201312056 0.00004
NM_000037.4(ANK1):c.2817G>A (p.Pro939=) rs751319722 0.00004
NM_000037.4(ANK1):c.3002G>A (p.Arg1001His) rs144724635 0.00004
NM_000037.4(ANK1):c.4976C>T (p.Ala1659Val) rs369796910 0.00004
NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val) rs767580738 0.00004
NM_000037.4(ANK1):c.*1031G>A rs867723923 0.00003
NM_000037.4(ANK1):c.*2172C>A rs886062930 0.00003
NM_000037.4(ANK1):c.*4C>T rs201561226 0.00003
NM_000037.4(ANK1):c.*64A>G rs767748017 0.00003
NM_000037.4(ANK1):c.1056G>C (p.Arg352Ser) rs375151253 0.00003
NM_000037.4(ANK1):c.1415C>T (p.Thr472Ile) rs150655828 0.00003
NM_000037.4(ANK1):c.1486C>T (p.Pro496Ser) rs138685137 0.00003
NM_000037.4(ANK1):c.2835G>A (p.Ala945=) rs771079681 0.00003
NM_000037.4(ANK1):c.3203G>A (p.Arg1068Gln) rs763961763 0.00003
NM_000037.4(ANK1):c.3770G>A (p.Arg1257His) rs777970142 0.00003
NM_000037.4(ANK1):c.4259-13T>C rs772895763 0.00003
NM_000037.4(ANK1):c.4390+9C>T rs751035092 0.00003
NM_000037.4(ANK1):c.4541A>C (p.Tyr1514Ser) rs755637526 0.00003
NM_000037.4(ANK1):c.4636G>A (p.Val1546Ile) rs1060130 0.00003
NM_000037.4(ANK1):c.5008G>A (p.Val1670Met) rs886062937 0.00003
NM_000037.4(ANK1):c.617G>A (p.Gly206Glu) rs886062943 0.00003
NM_000037.4(ANK1):c.639G>A (p.Ala213=) rs766500460 0.00003
NM_000037.4(ANK1):c.*117G>A rs575900279 0.00002
NM_000037.4(ANK1):c.*1884G>A rs1476190517 0.00002
NM_000037.4(ANK1):c.*411C>G rs1361354647 0.00002
NM_000037.4(ANK1):c.1178C>T (p.Thr393Met) rs563833117 0.00002
NM_000037.4(ANK1):c.1563C>T (p.Ala521=) rs762615459 0.00002
NM_000037.4(ANK1):c.1673G>A (p.Arg558Gln) rs577967149 0.00002
NM_000037.4(ANK1):c.1824C>T (p.Ile608=) rs144904116 0.00002
NM_000037.4(ANK1):c.3532+10G>T rs766646963 0.00002
NM_000037.4(ANK1):c.3601G>A (p.Ala1201Thr) rs139513895 0.00002
NM_000037.4(ANK1):c.4104+12C>T rs768356739 0.00002
NM_000037.4(ANK1):c.4183+4C>T rs745597765 0.00002
NM_000037.4(ANK1):c.5119G>A (p.Gly1707Ser) rs746486928 0.00002
NM_000037.4(ANK1):c.*1074A>G rs886062933 0.00001
NM_000037.4(ANK1):c.*1120T>C rs977041324 0.00001
NM_000037.4(ANK1):c.*2342C>G rs886062929 0.00001
NM_000037.4(ANK1):c.*48G>A rs752874877 0.00001
NM_000037.4(ANK1):c.*866C>G rs1160580288 0.00001
NM_000037.4(ANK1):c.-33G>A rs776534102 0.00001
NM_000037.4(ANK1):c.1066G>A (p.Val356Ile) rs199832220 0.00001
NM_000037.4(ANK1):c.1117A>T (p.Thr373Ser) rs779654741 0.00001
NM_000037.4(ANK1):c.1230G>C (p.Val410=) rs184006495 0.00001
NM_000037.4(ANK1):c.1265A>T (p.Asn422Ile) rs768063027 0.00001
NM_000037.4(ANK1):c.1350G>A (p.Thr450=) rs769803878 0.00001
NM_000037.4(ANK1):c.2197-9A>G rs758665687 0.00001
NM_000037.4(ANK1):c.2899G>A (p.Glu967Lys) rs770345014 0.00001
NM_000037.4(ANK1):c.3469G>A (p.Asp1157Asn) rs747027965 0.00001
NM_000037.4(ANK1):c.3653G>A (p.Arg1218Gln) rs758602146 0.00001
NM_000037.4(ANK1):c.3709C>A (p.Pro1237Thr) rs765958291 0.00001
NM_000037.4(ANK1):c.384G>A (p.Lys128=) rs758750884 0.00001
NM_000037.4(ANK1):c.4037C>T (p.Ala1346Val) rs886062939 0.00001
NM_000037.4(ANK1):c.4365C>T (p.Val1455=) rs748684817 0.00001
NM_000037.4(ANK1):c.5177C>T (p.Thr1726Met) rs200662932 0.00001
NM_000037.4(ANK1):c.5289A>G (p.Thr1763=) rs761133472 0.00001
NM_000037.4(ANK1):c.5395-1080C>T rs143349452 0.00001
NM_000037.4(ANK1):c.5395-1157A>T rs1204104038 0.00001
NM_000037.4(ANK1):c.5448G>A (p.Thr1816=) rs146637140 0.00001
NM_000037.4(ANK1):c.649G>A (p.Glu217Lys) rs886062942 0.00001
NM_000037.4(ANK1):c.660C>T (p.Asn220=) rs773555671 0.00001
NM_000037.4(ANK1):c.711+13C>T rs763737257 0.00001
NM_000037.4(ANK1):c.722C>T (p.Thr241Met) rs761960519 0.00001
NM_000037.4(ANK1):c.801C>T (p.Thr267=) rs780194667 0.00001
NM_000037.4(ANK1):c.947A>G (p.Asp316Gly) rs760321571 0.00001
NM_000037.4(ANK1):c.*1062T>G rs886062934
NM_000037.4(ANK1):c.*1242G>T rs886062932
NM_000037.4(ANK1):c.*1250A>G rs1805075039
NM_000037.4(ANK1):c.*1424C>T rs1312631766
NM_000037.4(ANK1):c.*1474C>T rs1805004224
NM_000037.4(ANK1):c.*1590G>A rs572470025
NM_000037.4(ANK1):c.*1808A>G rs1462339318
NM_000037.4(ANK1):c.*1858A>C rs372070501
NM_000037.4(ANK1):c.*1880C>A rs1238270293
NM_000037.4(ANK1):c.*1892G>T rs116365681
NM_000037.4(ANK1):c.*2409C>T rs951243751
NM_000037.4(ANK1):c.*378T>G rs1805325198
NM_000037.4(ANK1):c.*437A>C rs1475025499
NM_000037.4(ANK1):c.*651A>C rs886062936
NM_000037.4(ANK1):c.*822G>A rs1805185515
NM_000037.4(ANK1):c.-63A>G rs1849016140
NM_000037.4(ANK1):c.1028A>C (p.His343Pro)
NM_000037.4(ANK1):c.1050C>T (p.His350=) rs1828761369
NM_000037.4(ANK1):c.1131C>A (p.Ile377=) rs373336198
NM_000037.4(ANK1):c.1150G>A (p.Val384Ile)
NM_000037.4(ANK1):c.1179G>A (p.Thr393=) rs886062941
NM_000037.4(ANK1):c.1187C>T (p.Ser396Leu)
NM_000037.4(ANK1):c.1277G>A (p.Arg426Gln) rs776721065
NM_000037.4(ANK1):c.1303G>A (p.Val435Met)
NM_000037.4(ANK1):c.1351G>A (p.Glu451Lys)
NM_000037.4(ANK1):c.1404+15C>A rs201598401
NM_000037.4(ANK1):c.1435C>T (p.Arg479Cys)
NM_000037.4(ANK1):c.1438A>G (p.Ile480Val)
NM_000037.4(ANK1):c.1540G>T (p.Gly514Cys)
NM_000037.4(ANK1):c.1693G>T (p.Ala565Ser) rs1827218179
NM_000037.4(ANK1):c.1801-3C>G
NM_000037.4(ANK1):c.1828G>T (p.Ala610Ser)
NM_000037.4(ANK1):c.1888G>A (p.Ala630Thr)
NM_000037.4(ANK1):c.1910C>T (p.Thr637Met)
NM_000037.4(ANK1):c.1948A>G (p.Met650Val) rs1057518790
NM_000037.4(ANK1):c.1982G>A (p.Gly661Asp)
NM_000037.4(ANK1):c.1998+5G>A rs946534987
NM_000037.4(ANK1):c.2098-5T>C rs2150613009
NM_000037.4(ANK1):c.2234G>A (p.Gly745Glu)
NM_000037.4(ANK1):c.2258T>C (p.Leu753Pro) rs1823867456
NM_000037.4(ANK1):c.2294C>T (p.Ser765Leu)
NM_000037.4(ANK1):c.2389-8C>A
NM_000037.4(ANK1):c.2395A>C (p.Ser799Arg)
NM_000037.4(ANK1):c.242C>A (p.Ala81Asp)
NM_000037.4(ANK1):c.2447T>A (p.Val816Asp)
NM_000037.4(ANK1):c.247C>T (p.His83Tyr)
NM_000037.4(ANK1):c.2508T>A (p.Asp836Glu) rs776018872
NM_000037.4(ANK1):c.2510T>C (p.Val837Ala)
NM_000037.4(ANK1):c.2539G>T (p.Val847Leu)
NM_000037.4(ANK1):c.253G>A (p.Ala85Thr)
NM_000037.4(ANK1):c.253G>T (p.Ala85Ser)
NM_000037.4(ANK1):c.2572G>C (p.Ala858Pro)
NM_000037.4(ANK1):c.2637G>A (p.Gln879=)
NM_000037.4(ANK1):c.265G>A (p.Gly89Arg)
NM_000037.4(ANK1):c.28-6_29dup
NM_000037.4(ANK1):c.2810T>C (p.Val937Ala) rs1586181590
NM_000037.4(ANK1):c.283C>T (p.Arg95Trp)
NM_000037.4(ANK1):c.2855G>A (p.Arg952His)
NM_000037.4(ANK1):c.2924T>C (p.Ile975Thr)
NM_000037.4(ANK1):c.2971G>A (p.Val991Met)
NM_000037.4(ANK1):c.2972T>G (p.Val991Gly) rs1820556702
NM_000037.4(ANK1):c.2981C>T (p.Pro994Leu) rs753931863
NM_000037.4(ANK1):c.3019G>A (p.Val1007Met)
NM_000037.4(ANK1):c.3049T>G (p.Trp1017Gly)
NM_000037.4(ANK1):c.310G>A (p.Val104Ile)
NM_000037.4(ANK1):c.3178C>A (p.Pro1060Thr)
NM_000037.4(ANK1):c.3179C>T (p.Pro1060Leu) rs267601925
NM_000037.4(ANK1):c.3202C>T (p.Arg1068Trp) rs1820329178
NM_000037.4(ANK1):c.3220G>A (p.Asp1074Asn)
NM_000037.4(ANK1):c.3235G>A (p.Glu1079Lys)
NM_000037.4(ANK1):c.327G>A (p.Gln109=)
NM_000037.4(ANK1):c.3342G>T (p.Pro1114=) rs374102892
NM_000037.4(ANK1):c.3386G>T (p.Ser1129Ile) rs2150592257
NM_000037.4(ANK1):c.3387C>A (p.Ser1129Arg)
NM_000037.4(ANK1):c.3395T>A (p.Val1132Asp)
NM_000037.4(ANK1):c.344T>A (p.Leu115Gln)
NM_000037.4(ANK1):c.344T>C (p.Leu115Pro) rs1586505238
NM_000037.4(ANK1):c.3553T>G (p.Trp1185Gly)
NM_000037.4(ANK1):c.356C>G (p.Ala119Gly) rs2150661855
NM_000037.4(ANK1):c.3598T>C (p.Cys1200Arg)
NM_000037.4(ANK1):c.3641C>T (p.Ser1214Leu)
NM_000037.4(ANK1):c.3717G>A (p.Met1239Ile) rs1819636555
NM_000037.4(ANK1):c.3727G>A (p.Val1243Ile)
NM_000037.4(ANK1):c.3763C>T (p.Arg1255Cys)
NM_000037.4(ANK1):c.3820G>A (p.Glu1274Lys)
NM_000037.4(ANK1):c.3829G>C (p.Val1277Leu)
NM_000037.4(ANK1):c.3857A>G (p.Glu1286Gly)
NM_000037.4(ANK1):c.3858+4A>G
NM_000037.4(ANK1):c.3946C>G (p.Gln1316Glu)
NM_000037.4(ANK1):c.3971C>T (p.Ala1324Val) rs1228458158
NM_000037.4(ANK1):c.3985-10T>C rs886062940
NM_000037.4(ANK1):c.4030C>T (p.Arg1344Cys)
NM_000037.4(ANK1):c.4060C>T (p.His1354Tyr) rs764226906
NM_000037.4(ANK1):c.4104G>C (p.Lys1368Asn)
NM_000037.4(ANK1):c.4114G>A (p.Ala1372Thr)
NM_000037.4(ANK1):c.4370G>A (p.Arg1457His)
NM_000037.4(ANK1):c.4538G>A (p.Gly1513Asp)
NM_000037.4(ANK1):c.4694_4711del (p.Asp1565_Ser1570del)
NM_000037.4(ANK1):c.4783G>A (p.Ala1595Thr)
NM_000037.4(ANK1):c.5033G>T (p.Arg1678Met)
NM_000037.4(ANK1):c.5096G>A (p.Arg1699Lys)
NM_000037.4(ANK1):c.5126T>C (p.Ile1709Thr)
NM_000037.4(ANK1):c.5189A>T (p.His1730Leu)
NM_000037.4(ANK1):c.5282C>T (p.Thr1761Met)
NM_000037.4(ANK1):c.5333G>A (p.Arg1778Lys)
NM_000037.4(ANK1):c.5372A>T (p.Asn1791Ile)
NM_000037.4(ANK1):c.5606T>G (p.Ile1869Arg)
NM_000037.4(ANK1):c.5628A>G (p.Lys1876=) rs184665931
NM_000037.4(ANK1):c.634A>G (p.Ile212Val)
NM_000037.4(ANK1):c.659A>G (p.Asn220Ser)
NM_000037.4(ANK1):c.694G>A (p.Val232Ile)
NM_000037.4(ANK1):c.711+3A>C
NM_000037.4(ANK1):c.749G>T (p.Gly250Val)
NM_000037.4(ANK1):c.758T>G (p.Ile253Ser) rs770333748
NM_000037.4(ANK1):c.761T>C (p.Met254Thr)
NM_000037.4(ANK1):c.782G>A (p.Arg261Gln)
NM_000037.4(ANK1):c.806C>T (p.Thr269Ile)
NM_000037.4(ANK1):c.830A>C (p.His277Pro) rs1829714663
NM_000037.4(ANK1):c.875T>C (p.Leu292Pro) rs1829705168
NM_000037.4(ANK1):c.931A>G (p.Met311Val) rs2150644664
NM_000037.4(ANK1):c.935C>A (p.Ala312Glu) rs1036457270
NM_000037.4(ANK1):c.935C>T (p.Ala312Val)
NM_000037.4(ANK1):c.958T>C (p.Cys320Arg)
NM_000037.4(ANK1):c.964C>A (p.Arg322=) rs770743762
NM_000037.4(ANK1):c.964C>T (p.Arg322Trp)
NM_000037.4(ANK1):c.965G>T (p.Arg322Leu) rs183864227
NM_000037.4(ANK1):c.985G>T (p.Ala329Ser) rs746138074

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