ClinVar Miner

List of variants reported as likely pathogenic for Hereditary spherocytosis type 1 by Revvity Omics, Revvity

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 88
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000037.4(ANK1):c.1124del (p.Leu375fs)
NM_000037.4(ANK1):c.1282dup (p.Ala428fs)
NM_000037.4(ANK1):c.1381_1382del (p.Ala461fs)
NM_000037.4(ANK1):c.1405-9G>A
NM_000037.4(ANK1):c.1452del (p.Asn484fs) rs2150635459
NM_000037.4(ANK1):c.1488dup (p.Asn497fs)
NM_000037.4(ANK1):c.1537G>T (p.Glu513Ter)
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.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.1801-17G>A rs786205243
NM_000037.4(ANK1):c.1895C>A (p.Ser632Ter) rs749423708
NM_000037.4(ANK1):c.1900C>T (p.Gln634Ter)
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.2023dup (p.Val675fs)
NM_000037.4(ANK1):c.2148_2157del (p.Val717fs)
NM_000037.4(ANK1):c.2296-1G>A
NM_000037.4(ANK1):c.2320_2350del (p.Ala774fs)
NM_000037.4(ANK1):c.2389-2A>G
NM_000037.4(ANK1):c.2485del (p.Ala829fs)
NM_000037.4(ANK1):c.2558+2T>C rs2150602525
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.2823del (p.Thr942fs)
NM_000037.4(ANK1):c.2960+1G>A rs2150596703
NM_000037.4(ANK1):c.2961-2A>G rs2150594692
NM_000037.4(ANK1):c.3050G>A (p.Trp1017Ter)
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.3196_3199dup (p.Ser1067fs)
NM_000037.4(ANK1):c.341C>T (p.Pro114Leu)
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.3777C>G (p.Tyr1259Ter)
NM_000037.4(ANK1):c.3841del (p.Arg1281fs)
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.3954del (p.Arg1319fs)
NM_000037.4(ANK1):c.4092_4101del (p.Pro1365fs)
NM_000037.4(ANK1):c.409C>T (p.Gln137Ter) rs2150661792
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.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.4492_4493del (p.Arg1498fs)
NM_000037.4(ANK1):c.4529del (p.Gln1510fs)
NM_000037.4(ANK1):c.4599_4600del (p.Pro1534fs)
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.5076dup (p.Thr1693fs)
NM_000037.4(ANK1):c.5096+2T>G
NM_000037.4(ANK1):c.511_541del (p.Lys171fs)
NM_000037.4(ANK1):c.5164del (p.Gln1722fs)
NM_000037.4(ANK1):c.5323_5324del (p.Arg1775fs)
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.612+1G>C
NM_000037.4(ANK1):c.613-1G>A
NM_000037.4(ANK1):c.6dup (p.Tyr3fs)
NM_000037.4(ANK1):c.712-2A>T rs2150653010
NM_000037.4(ANK1):c.725del (p.Pro242fs) rs2150652933
NM_000037.4(ANK1):c.810+1G>A
NM_000037.4(ANK1):c.86del (p.Leu29fs)
NM_000037.4(ANK1):c.910-2A>G

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.