ClinVar Miner

List of variants reported as likely benign for Spherocytosis

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Total variants: 15
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HGVS dbSNP gnomAD frequency
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.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.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

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