ClinVar Miner

List of variants studied for Hereditary spherocytosis type 1 by Revvity Omics, Revvity

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ClinVar version:
Total variants: 199
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HGVS dbSNP gnomAD frequency
NM_000037.4(ANK1):c.1483A>C (p.Asn495His) rs143839208 0.00057
NM_000037.4(ANK1):c.4156T>C (p.Tyr1386His) rs201439151 0.00041
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.499G>C (p.Gly167Arg) rs201024919 0.00021
NM_000037.4(ANK1):c.5614C>T (p.Arg1872Trp) rs145235970 0.00014
NM_000037.4(ANK1):c.3652C>T (p.Arg1218Trp) rs142542271 0.00009
NM_000037.4(ANK1):c.4105-5T>G rs768183148 0.00006
NM_000037.4(ANK1):c.4472G>A (p.Arg1491His) rs372878614 0.00004
NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val) rs767580738 0.00004
NM_000037.4(ANK1):c.563C>T (p.Thr188Met) rs146346710 0.00004
NM_000037.4(ANK1):c.1415C>T (p.Thr472Ile) rs150655828 0.00003
NM_000037.4(ANK1):c.1178C>T (p.Thr393Met) rs563833117 0.00002
NM_000037.4(ANK1):c.5119G>A (p.Gly1707Ser) rs746486928 0.00002
NM_000037.4(ANK1):c.1265A>T (p.Asn422Ile) rs768063027 0.00001
NM_000037.4(ANK1):c.4153C>T (p.Arg1385Ter) rs750820522 0.00001
NM_000037.4(ANK1):c.4462C>T (p.Arg1488Ter) rs777701149 0.00001
NM_000037.4(ANK1):c.1028A>C (p.His343Pro)
NM_000037.4(ANK1):c.1124del (p.Leu375fs)
NM_000037.4(ANK1):c.1150G>A (p.Val384Ile)
NM_000037.4(ANK1):c.1187C>T (p.Ser396Leu)
NM_000037.4(ANK1):c.1277G>A (p.Arg426Gln) rs776721065
NM_000037.4(ANK1):c.1282dup (p.Ala428fs)
NM_000037.4(ANK1):c.1303G>A (p.Val435Met)
NM_000037.4(ANK1):c.1351G>A (p.Glu451Lys)
NM_000037.4(ANK1):c.1381_1382del (p.Ala461fs)
NM_000037.4(ANK1):c.1405-9G>A
NM_000037.4(ANK1):c.1435C>T (p.Arg479Cys)
NM_000037.4(ANK1):c.1438A>G (p.Ile480Val)
NM_000037.4(ANK1):c.1452del (p.Asn484fs) rs2150635459
NM_000037.4(ANK1):c.1488dup (p.Asn497fs)
NM_000037.4(ANK1):c.1519del (p.Leu507fs)
NM_000037.4(ANK1):c.1519dup (p.Leu507fs) rs397514029
NM_000037.4(ANK1):c.1537G>T (p.Glu513Ter)
NM_000037.4(ANK1):c.1540G>T (p.Gly514Cys)
NM_000037.4(ANK1):c.1585C>T (p.Gln529Ter)
NM_000037.4(ANK1):c.1675del (p.Asp559fs)
NM_000037.4(ANK1):c.1702-2A>G rs1554567249
NM_000037.4(ANK1):c.1709del (p.Leu570fs)
NM_000037.4(ANK1):c.1717del (p.Leu573fs) rs1826989524
NM_000037.4(ANK1):c.1717dup (p.Leu573fs)
NM_000037.4(ANK1):c.1779_1800+1dup
NM_000037.4(ANK1):c.1781_1794del (p.Ser594fs) rs2150631832
NM_000037.4(ANK1):c.1784dup (p.His596fs)
NM_000037.4(ANK1):c.1786C>A (p.His596Asn)
NM_000037.4(ANK1):c.1801-17G>A rs786205243
NM_000037.4(ANK1):c.1801-3C>G
NM_000037.4(ANK1):c.1888G>A (p.Ala630Thr)
NM_000037.4(ANK1):c.1895C>A (p.Ser632Ter) rs749423708
NM_000037.4(ANK1):c.1900C>T (p.Gln634Ter)
NM_000037.4(ANK1):c.1910C>T (p.Thr637Met)
NM_000037.4(ANK1):c.1930C>T (p.Gln644Ter)
NM_000037.4(ANK1):c.1933G>T (p.Glu645Ter)
NM_000037.4(ANK1):c.1972C>T (p.Gln658Ter)
NM_000037.4(ANK1):c.1982G>A (p.Gly661Asp)
NM_000037.4(ANK1):c.2023dup (p.Val675fs)
NM_000037.4(ANK1):c.2098-5T>C rs2150613009
NM_000037.4(ANK1):c.2148_2157del (p.Val717fs)
NM_000037.4(ANK1):c.2164C>T (p.Gln722Ter) rs747701761
NM_000037.4(ANK1):c.2234G>A (p.Gly745Glu)
NM_000037.4(ANK1):c.2294C>T (p.Ser765Leu)
NM_000037.4(ANK1):c.2296-1G>A
NM_000037.4(ANK1):c.2296-2A>G
NM_000037.4(ANK1):c.2320_2350del (p.Ala774fs)
NM_000037.4(ANK1):c.2369C>T (p.Thr790Met)
NM_000037.4(ANK1):c.2389-2A>G
NM_000037.4(ANK1):c.2390_2393del
NM_000037.4(ANK1):c.2394_2397del (p.Ser799fs) rs2150605978
NM_000037.4(ANK1):c.242C>A (p.Ala81Asp)
NM_000037.4(ANK1):c.247C>T (p.His83Tyr)
NM_000037.4(ANK1):c.2485del (p.Ala829fs)
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.2558+2T>C rs2150602525
NM_000037.4(ANK1):c.2572G>C (p.Ala858Pro)
NM_000037.4(ANK1):c.265G>A (p.Gly89Arg)
NM_000037.4(ANK1):c.2681del (p.Pro894fs)
NM_000037.4(ANK1):c.2764del (p.Arg922fs)
NM_000037.4(ANK1):c.2768del (p.Gly923fs) rs2150597126
NM_000037.4(ANK1):c.28-6_29dup
NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter) rs2150597061
NM_000037.4(ANK1):c.2823del (p.Thr942fs)
NM_000037.4(ANK1):c.283C>T (p.Arg95Trp)
NM_000037.4(ANK1):c.2924T>C (p.Ile975Thr)
NM_000037.4(ANK1):c.2960+1G>A rs2150596703
NM_000037.4(ANK1):c.2961-2A>G rs2150594692
NM_000037.4(ANK1):c.2971G>A (p.Val991Met)
NM_000037.4(ANK1):c.3019G>A (p.Val1007Met)
NM_000037.4(ANK1):c.3049T>G (p.Trp1017Gly)
NM_000037.4(ANK1):c.3050G>A (p.Trp1017Ter)
NM_000037.4(ANK1):c.3073G>T (p.Gly1025Ter)
NM_000037.4(ANK1):c.310G>A (p.Val104Ile)
NM_000037.4(ANK1):c.3123del (p.Ser1042fs)
NM_000037.4(ANK1):c.3123dup (p.Ser1042fs)
NM_000037.4(ANK1):c.3150_3151insAAGG (p.Val1051fs)
NM_000037.4(ANK1):c.3157C>T (p.Arg1053Ter) rs2150593517
NM_000037.4(ANK1):c.3179C>T (p.Pro1060Leu) rs267601925
NM_000037.4(ANK1):c.3196_3199dup (p.Ser1067fs)
NM_000037.4(ANK1):c.3220G>A (p.Asp1074Asn)
NM_000037.4(ANK1):c.3235G>A (p.Glu1079Lys)
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.341C>T (p.Pro114Leu)
NM_000037.4(ANK1):c.344T>A (p.Leu115Gln)
NM_000037.4(ANK1):c.3493_3496dup (p.Asp1166fs)
NM_000037.4(ANK1):c.3533-2A>G
NM_000037.4(ANK1):c.3550C>T (p.Gln1184Ter)
NM_000037.4(ANK1):c.3563_3564del (p.Ile1188fs)
NM_000037.4(ANK1):c.3623_3624del (p.Ser1208fs) rs1586144223
NM_000037.4(ANK1):c.3630-1G>A
NM_000037.4(ANK1):c.3641C>T (p.Ser1214Leu)
NM_000037.4(ANK1):c.3727G>A (p.Val1243Ile)
NM_000037.4(ANK1):c.3754C>T (p.Arg1252Ter)
NM_000037.4(ANK1):c.3763C>T (p.Arg1255Cys)
NM_000037.4(ANK1):c.3777C>G (p.Tyr1259Ter)
NM_000037.4(ANK1):c.3820G>A (p.Glu1274Lys)
NM_000037.4(ANK1):c.3829G>C (p.Val1277Leu)
NM_000037.4(ANK1):c.3841del (p.Arg1281fs)
NM_000037.4(ANK1):c.3857A>G (p.Glu1286Gly)
NM_000037.4(ANK1):c.3859-2A>G
NM_000037.4(ANK1):c.3893_3894del (p.Ser1298fs)
NM_000037.4(ANK1):c.3928C>T (p.Gln1310Ter) rs2150586181
NM_000037.4(ANK1):c.3946C>G (p.Gln1316Glu)
NM_000037.4(ANK1):c.3954del (p.Arg1319fs)
NM_000037.4(ANK1):c.4000C>T (p.Arg1334Ter) rs1172677213
NM_000037.4(ANK1):c.4030C>T (p.Arg1344Cys)
NM_000037.4(ANK1):c.4092_4101del (p.Pro1365fs)
NM_000037.4(ANK1):c.409C>T (p.Gln137Ter) rs2150661792
NM_000037.4(ANK1):c.4104G>C (p.Lys1368Asn)
NM_000037.4(ANK1):c.4114G>A (p.Ala1372Thr)
NM_000037.4(ANK1):c.4184-2A>G
NM_000037.4(ANK1):c.4259-1G>T
NM_000037.4(ANK1):c.4267del (p.Arg1423fs)
NM_000037.4(ANK1):c.4370G>A (p.Arg1457His)
NM_000037.4(ANK1):c.4387_4390del (p.Asn1463fs)
NM_000037.4(ANK1):c.4390+1G>A rs2150580336
NM_000037.4(ANK1):c.4391-1G>C
NM_000037.4(ANK1):c.441_466del (p.Pro147_Leu148insTer)
NM_000037.4(ANK1):c.4427G>T (p.Arg1476Leu)
NM_000037.4(ANK1):c.4492C>T (p.Arg1498Trp)
NM_000037.4(ANK1):c.4492_4493del (p.Arg1498fs)
NM_000037.4(ANK1):c.4501G>C (p.Asp1501His)
NM_000037.4(ANK1):c.4529del (p.Gln1510fs)
NM_000037.4(ANK1):c.4599_4600del (p.Pro1534fs)
NM_000037.4(ANK1):c.4694_4711del (p.Asp1565_Ser1570del)
NM_000037.4(ANK1):c.4771G>T (p.Glu1591Ter)
NM_000037.4(ANK1):c.4779_4780del (p.Asp1594fs)
NM_000037.4(ANK1):c.47_50del (p.Ser15_Phe16insTer)
NM_000037.4(ANK1):c.4813del (p.Ala1605fs) rs2150563125
NM_000037.4(ANK1):c.4835_4847del (p.Gly1612fs)
NM_000037.4(ANK1):c.4835del (p.Gly1612fs) rs2150563078
NM_000037.4(ANK1):c.4886del (p.Asp1629fs)
NM_000037.4(ANK1):c.500dup (p.Thr168fs)
NM_000037.4(ANK1):c.5026del (p.His1676fs)
NM_000037.4(ANK1):c.5033G>T (p.Arg1678Met)
NM_000037.4(ANK1):c.5044C>T (p.Arg1682Ter)
NM_000037.4(ANK1):c.5076dup (p.Thr1693fs)
NM_000037.4(ANK1):c.5096+2T>G
NM_000037.4(ANK1):c.5096G>A (p.Arg1699Lys)
NM_000037.4(ANK1):c.5097-33G>A
NM_000037.4(ANK1):c.511_541del (p.Lys171fs)
NM_000037.4(ANK1):c.5126T>C (p.Ile1709Thr)
NM_000037.4(ANK1):c.5163G>A (p.Trp1721Ter) rs137852830
NM_000037.4(ANK1):c.5164del (p.Gln1722fs)
NM_000037.4(ANK1):c.5189A>T (p.His1730Leu)
NM_000037.4(ANK1):c.5282C>T (p.Thr1761Met)
NM_000037.4(ANK1):c.5323_5324del (p.Arg1775fs)
NM_000037.4(ANK1):c.5333G>A (p.Arg1778Lys)
NM_000037.4(ANK1):c.5372A>T (p.Asn1791Ile)
NM_000037.4(ANK1):c.5374_5375del (p.Thr1792fs)
NM_000037.4(ANK1):c.547_559del (p.Asn183fs)
NM_000037.4(ANK1):c.5500C>T (p.Gln1834Ter)
NM_000037.4(ANK1):c.557del (p.Thr186fs)
NM_000037.4(ANK1):c.5606T>G (p.Ile1869Arg)
NM_000037.4(ANK1):c.612+1G>C
NM_000037.4(ANK1):c.613-1G>A
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.6dup (p.Tyr3fs)
NM_000037.4(ANK1):c.711+3A>C
NM_000037.4(ANK1):c.712-2A>T rs2150653010
NM_000037.4(ANK1):c.725del (p.Pro242fs) rs2150652933
NM_000037.4(ANK1):c.749G>T (p.Gly250Val)
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.810+1G>A
NM_000037.4(ANK1):c.814G>T (p.Glu272Ter)
NM_000037.4(ANK1):c.841C>T (p.Arg281Ter) rs1829712320
NM_000037.4(ANK1):c.856C>T (p.Arg286Ter) rs2150651762
NM_000037.4(ANK1):c.86del (p.Leu29fs)
NM_000037.4(ANK1):c.910-2A>G
NM_000037.4(ANK1):c.935C>T (p.Ala312Val)
NM_000037.4(ANK1):c.958T>C (p.Cys320Arg)
NM_000037.4(ANK1):c.964C>T (p.Arg322Trp)

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