ClinVar Miner

List of variants in gene ANK1, LOC124153154 studied for Hereditary spherocytosis type 1

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000037.4(ANK1):c.597G>A (p.Pro199=) rs2304873 0.10581
NM_000037.4(ANK1):c.450A>G (p.Val150=) rs6982971 0.04455
NM_000037.4(ANK1):c.612+18G>C rs57815524 0.04206
NM_000037.4(ANK1):c.489C>T (p.Leu163=) rs34173100 0.01106
NM_000037.4(ANK1):c.447G>T (p.Ala149=) rs140550365 0.00025
NM_000037.4(ANK1):c.499G>C (p.Gly167Arg) rs201024919 0.00021
NM_000037.4(ANK1):c.528C>T (p.Ala176=) rs544906793 0.00018
NM_000037.4(ANK1):c.483G>A (p.Ala161=) rs200639644 0.00009
NM_000037.4(ANK1):c.563C>T (p.Thr188Met) rs146346710 0.00004
NM_000037.4(ANK1):c.427-2A>G
NM_000037.4(ANK1):c.441_466del (p.Pro147_Leu148insTer)
NM_000037.4(ANK1):c.455T>C (p.Leu152Pro)
NM_000037.4(ANK1):c.500dup (p.Thr168fs)
NM_000037.4(ANK1):c.511_541del (p.Lys171fs)
NM_000037.4(ANK1):c.534del (p.His178fs) rs1554578304
NM_000037.4(ANK1):c.547_559del (p.Asn183fs)
NM_000037.4(ANK1):c.557del (p.Thr186fs)
NM_000037.4(ANK1):c.612+1G>C

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