ClinVar Miner

List of variants reported as likely benign for Hereditary spherocytosis type 1 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) rs61735313 0.01280
NM_000037.4(ANK1):c.5544+91C>T rs72638959 0.00849
NM_000037.4(ANK1):c.1506C>T (p.Ala502=) rs34387324 0.00407
NM_000037.4(ANK1):c.5544+46G>A rs114905632 0.00304
NM_000037.4(ANK1):c.5097-34C>T rs185434561 0.00261
NM_000037.4(ANK1):c.981C>T (p.Tyr327=) rs61758867 0.00253
NM_000037.4(ANK1):c.2197-17G>A rs188360816 0.00183
NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln) rs34523608 0.00150
NM_000037.4(ANK1):c.2745G>A (p.Val915=) rs143585080 0.00150
NM_000037.4(ANK1):c.5395-1162C>A rs145094714 0.00138
NM_000037.4(ANK1):c.4606C>T (p.Arg1536Cys) rs146416859 0.00121
NM_000037.4(ANK1):c.2826G>A (p.Thr942=) rs7002295 0.00119
NM_000037.4(ANK1):c.997G>A (p.Asp333Asn) rs147608206 0.00119
NM_000037.4(ANK1):c.2132A>G (p.Tyr711Cys) rs139375455 0.00093
NM_000037.4(ANK1):c.2844C>T (p.Arg948=) rs7001141 0.00069
NM_000037.4(ANK1):c.1404+15C>T rs201598401 0.00067
NM_000037.4(ANK1):c.2196+6G>A rs200761553 0.00064
NM_000037.4(ANK1):c.4022C>T (p.Ser1341Leu) rs145562489 0.00063
NM_000037.4(ANK1):c.1467G>A (p.Leu489=) rs148165519 0.00057
NM_000037.4(ANK1):c.1483A>C (p.Asn495His) rs143839208 0.00057
NM_000037.4(ANK1):c.2167C>A (p.His723Asn) rs150899388 0.00039
NM_000037.4(ANK1):c.5395-1057C>T rs372282334 0.00034
NM_000037.4(ANK1):c.3668T>C (p.Val1223Ala) rs185516533 0.00033
NM_000037.4(ANK1):c.447G>T (p.Ala149=) rs140550365 0.00025
NM_000037.4(ANK1):c.3298G>A (p.Val1100Ile) rs147741842 0.00023
NM_001142446.2(ANK1):c.127-39556C>T rs907195146 0.00020
NM_000037.4(ANK1):c.4099G>A (p.Ala1367Thr) rs148620640 0.00019
NM_000037.4(ANK1):c.1926C>T (p.Ala642=) rs534680895 0.00009
NM_000037.4(ANK1):c.4136C>T (p.Pro1379Leu) rs748160803 0.00009
NM_000037.4(ANK1):c.4538-6A>G rs776186305 0.00006
NM_000037.4(ANK1):c.1197G>A (p.Ala399=) rs756075877 0.00005
NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val) rs767580738 0.00004
NM_000037.4(ANK1):c.1305+21G>A rs1432243965 0.00003
NM_000037.4(ANK1):c.2352C>T (p.Asp784=) rs751238125 0.00002
NM_000037.4(ANK1):c.1602+18G>A rs764064612 0.00001
NM_000037.4(ANK1):c.4023G>A (p.Ser1341=) rs371816885 0.00001
NM_000037.4(ANK1):c.5598G>A (p.Gly1866=) rs775251229 0.00001
NM_000037.4(ANK1):c.1207-6T>C
NM_000037.4(ANK1):c.1659G>A (p.Glu553=)
NM_000037.4(ANK1):c.2461+20C>T
NM_000037.4(ANK1):c.3115+18C>T
NM_000037.4(ANK1):c.3327+19G>T rs200871595
NM_000037.4(ANK1):c.3342G>A (p.Pro1114=) rs374102892
NM_000037.4(ANK1):c.3829G>A (p.Val1277Met) rs148942046
NM_000037.4(ANK1):c.3984+10C>T
NM_000037.4(ANK1):c.4391-18T>C
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=) rs149859024
NM_000037.4(ANK1):c.5233G>A (p.Gly1745Ser)

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