ClinVar Miner

List of variants in gene ANK1 reported as uncertain significance for Hereditary spherocytosis type 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 265
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.3282G>A (p.Thr1094=) rs144821829 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.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.1143del (p.Asn382fs)
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.1228G>A (p.Val410Met)
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.1603-3C>A
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.248A>C (p.His83Pro)
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.3068G>A (p.Arg1023His)
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.3280A>G (p.Thr1094Ala)
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.4306C>T (p.Arg1436Ter) rs1586072383
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.5207G>T (p.Ser1736Ile)
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.5395-1079G>A
NM_000037.4(ANK1):c.5395-1085T>G
NM_000037.4(ANK1):c.5606T>G (p.Ile1869Arg)
NM_000037.4(ANK1):c.5628A>G (p.Lys1876=) rs184665931
NM_000037.4(ANK1):c.5633G>A (p.Gly1878Glu)
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.