ClinVar Miner

List of variants studied for obsolete spherocytosis

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 207
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HGVS dbSNP gnomAD frequency
NM_000037.4(ANK1):c.*2152T>G rs543817 0.98376
NM_000037.4(ANK1):c.5479-3T>C rs515071 0.75703
NM_000037.4(ANK1):c.315C>T (p.Asn105=) rs2304871 0.23757
NM_000037.4(ANK1):c.5265G>A (p.Val1755=) rs750625 0.21708
NM_000037.4(ANK1):c.2349C>T (p.Thr783=) rs2304880 0.21375
NM_000037.4(ANK1):c.2073C>T (p.Gly691=) rs1137177 0.21318
NM_000037.4(ANK1):c.4101C>T (p.Ala1367=) rs7816734 0.18067
NM_000037.4(ANK1):c.597G>A (p.Pro199=) rs2304873 0.10581
NM_000037.4(ANK1):c.1856G>A (p.Arg619His) rs2304877 0.04842
NM_000037.4(ANK1):c.*1609C>G rs78203311 0.04627
NM_000037.4(ANK1):c.*238T>C rs72638944 0.04617
NM_000037.4(ANK1):c.*1899G>A rs72638943 0.04611
NM_000037.4(ANK1):c.450A>G (p.Val150=) rs6982971 0.04455
NM_000037.4(ANK1):c.909+7A>G rs17661203 0.04301
NM_000037.4(ANK1):c.3486C>T (p.Ser1162=) rs35964634 0.04182
NM_000037.4(ANK1):c.3973A>G (p.Met1325Val) rs10093583 0.04068
NM_000037.4(ANK1):c.1320G>A (p.Pro440=) rs28533718 0.03824
NM_000037.4(ANK1):c.1782C>A (p.Ser594=) rs61753679 0.02349
NM_000037.4(ANK1):c.*2022G>A rs112447985 0.02108
NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val) rs34664882 0.02105
NM_000037.4(ANK1):c.4506C>T (p.Arg1502=) rs34265667 0.02104
NM_000037.4(ANK1):c.4008G>A (p.Pro1336=) rs147536061 0.01340
NM_000037.4(ANK1):c.*1402G>T rs116137861 0.01314
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) rs61735313 0.01280
NM_000037.4(ANK1):c.183G>C (p.Val61=) rs61753680 0.01208
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=) rs16890758 0.01205
NM_000037.4(ANK1):c.489C>T (p.Leu163=) rs34173100 0.01106
NM_000037.4(ANK1):c.*1708G>C rs182454354 0.00775
NM_000037.4(ANK1):c.1590C>T (p.Ala530=) rs61758865 0.00673
NM_000037.4(ANK1):c.*774A>G rs142696529 0.00636
NM_000037.4(ANK1):c.3399C>T (p.Thr1133=) rs117516263 0.00465
NM_000037.4(ANK1):c.3033C>T (p.Ser1011=) rs61758866 0.00422
NM_000037.4(ANK1):c.1506C>T (p.Ala502=) rs34387324 0.00407
NM_000037.4(ANK1):c.2403G>A (p.Lys801=) rs147130318 0.00376
NM_000037.4(ANK1):c.2735+10G>A rs75296105 0.00374
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.2495G>A (p.Arg832Gln) rs34523608 0.00150
NM_000037.4(ANK1):c.*821C>T rs115248068 0.00146
NM_000037.4(ANK1):c.3532+13C>A rs181905023 0.00122
NM_000037.4(ANK1):c.4606C>T (p.Arg1536Cys) rs146416859 0.00121
NM_000037.4(ANK1):c.1484A>G (p.Asn495Ser) rs142690258 0.00114
NM_000037.4(ANK1):c.2589C>T (p.Pro863=) rs114870847 0.00102
NM_000037.4(ANK1):c.3102C>T (p.Asn1034=) rs145169484 0.00101
NM_000037.4(ANK1):c.2960+13G>T rs200746947 0.00099
NM_000037.4(ANK1):c.*2123G>T rs560472367 0.00089
NM_000037.4(ANK1):c.*992T>C rs559077429 0.00074
NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys) rs142626656 0.00067
NM_000037.4(ANK1):c.1404+15C>T rs201598401 0.00067
NM_000037.4(ANK1):c.2196+6G>A rs200761553 0.00064
NM_000037.4(ANK1):c.*665C>T rs547095997 0.00063
NM_000037.4(ANK1):c.4022C>T (p.Ser1341Leu) rs145562489 0.00063
NM_000037.4(ANK1):c.*395T>A rs550204540 0.00049
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.3668T>C (p.Val1223Ala) rs185516533 0.00033
NM_000037.4(ANK1):c.1203C>T (p.Thr401=) rs145628190 0.00032
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.675C>T (p.Leu225=) rs146507999 0.00026
NM_000037.4(ANK1):c.876G>A (p.Leu292=) rs373060967 0.00026
NM_000037.4(ANK1):c.447G>T (p.Ala149=) rs140550365 0.00025
NM_000037.4(ANK1):c.2713G>A (p.Val905Met) rs141069023 0.00024
NM_000037.4(ANK1):c.2097+15C>T rs200206750 0.00023
NM_000037.4(ANK1):c.*32G>A rs117166178 0.00021
NM_000037.4(ANK1):c.499G>C (p.Gly167Arg) rs201024919 0.00021
NM_000037.4(ANK1):c.669G>A (p.Gln223=) rs375060699 0.00021
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.528C>T (p.Ala176=) rs544906793 0.00018
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.2982G>A (p.Pro994=) rs139623406 0.00013
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.3570A>C (p.Gly1190=) rs762382303 0.00011
NM_000037.4(ANK1):c.3984+12C>T rs200019819 0.00011
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.483G>A (p.Ala161=) rs200639644 0.00009
NM_000037.4(ANK1):c.*1603C>G rs746821020 0.00008
NM_000037.4(ANK1):c.*857C>A rs138767348 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.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.*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.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.*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.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.5520C>T (p.Ala1840=) rs116148295 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.1117A>T (p.Thr373Ser) rs779654741 0.00001
NM_000037.4(ANK1):c.1230G>C (p.Val410=) rs184006495 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.2370G>T (p.Thr790=) rs540304535 0.00001
NM_000037.4(ANK1):c.237C>T (p.Asn79=) rs372696694 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.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.*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>A rs116365681
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.1131C>A (p.Ile377=) rs373336198
NM_000037.4(ANK1):c.1179G>A (p.Thr393=) rs886062941
NM_000037.4(ANK1):c.1404+15C>A rs201598401
NM_000037.4(ANK1):c.2913G>C (p.Leu971=) rs504574
NM_000037.4(ANK1):c.2981C>T (p.Pro994Leu) rs753931863
NM_000037.4(ANK1):c.3115+9G>A rs150850103
NM_000037.4(ANK1):c.3342G>T (p.Pro1114=) rs374102892
NM_000037.4(ANK1):c.3829G>A (p.Val1277Met) rs148942046
NM_000037.4(ANK1):c.3836T>G (p.Val1279Gly)
NM_000037.4(ANK1):c.3971C>T (p.Ala1324Val) rs1228458158
NM_000037.4(ANK1):c.3985-10T>C rs886062940
NM_000037.4(ANK1):c.4060C>T (p.His1354Tyr) rs764226906
NM_000037.4(ANK1):c.4497C>T (p.His1499=) rs370037242
NM_000037.4(ANK1):c.4524C>T (p.Pro1508=) rs886062938
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=) rs149859024
NM_000037.4(ANK1):c.5628A>G (p.Lys1876=) rs184665931
NM_000037.4(ANK1):c.875T>C (p.Leu292Pro) rs1829705168
NM_000037.4(ANK1):c.964C>A (p.Arg322=) rs770743762
NM_000037.4(ANK1):c.965G>T (p.Arg322Leu) rs183864227
NM_000037.4(ANK1):c.985G>T (p.Ala329Ser) rs746138074
NM_000342.4(SLC4A1):c.1782C>G (p.Ser594Arg)
NM_001355436.2(SPTB):c.2407G>A (p.Glu803Lys)
NM_001355436.2(SPTB):c.4520G>T (p.Gly1507Val) rs2139530241
NM_003126.4(SPTA1):c.25-1G>C

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