ClinVar Miner

List of variants reported as benign for Hereditary spherocytosis type 1 by Illumina Laboratory Services, Illumina

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Total variants: 37
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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.1590C>T (p.Ala530=) rs61758865 0.00673
NM_000037.4(ANK1):c.*774A>G rs142696529 0.00636
NM_000037.4(ANK1):c.3033C>T (p.Ser1011=) rs61758866 0.00422
NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln) rs34523608 0.00150
NM_000037.4(ANK1):c.3668T>C (p.Val1223Ala) rs185516533 0.00033
NM_000037.4(ANK1):c.675C>T (p.Leu225=) rs146507999 0.00026
NM_000037.4(ANK1):c.499G>C (p.Gly167Arg) rs201024919 0.00021
NM_000037.4(ANK1):c.237C>T (p.Asn79=) rs372696694 0.00001
NM_000037.4(ANK1):c.2913G>C (p.Leu971=) rs504574
NM_000037.4(ANK1):c.3115+9G>A rs150850103

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