ClinVar Miner

List of variants studied for Hereditary spherocytosis type 1 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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ClinVar version:
Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_000037.4(ANK1):c.5096+16T>C rs508112 0.97818
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.450A>G (p.Val150=) rs6982971 0.04455
NM_000037.4(ANK1):c.909+7A>G rs17661203 0.04301
NM_000037.4(ANK1):c.612+18G>C rs57815524 0.04206
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.5395-1147C>G rs112350393 0.03054
NM_000037.4(ANK1):c.1782C>A (p.Ser594=) rs61753679 0.02349
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.3327+21C>G rs61207451 0.01947
NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile) rs35213384 0.01414
NM_000037.4(ANK1):c.4008G>A (p.Pro1336=) rs147536061 0.01340
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) rs61735313 0.01280
NM_000037.4(ANK1):c.2970C>T (p.Ile990=) rs34969689 0.01218
NM_000037.4(ANK1):c.2211C>G (p.Pro737=) rs34194642 0.01217
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.2296-20C>T rs73619321 0.01143
NM_000037.4(ANK1):c.489C>T (p.Leu163=) rs34173100 0.01106
NM_000037.4(ANK1):c.5544+91C>T rs72638959 0.00849
NM_000037.4(ANK1):c.1590C>T (p.Ala530=) rs61758865 0.00673
NM_000037.4(ANK1):c.1999-17C>T rs28571216 0.00543
NM_000037.4(ANK1):c.-204C>G rs117184692 0.00514
NM_000037.4(ANK1):c.3399C>T (p.Thr1133=) rs117516263 0.00465
NM_000037.4(ANK1):c.3033C>T (p.Ser1011=) rs61758866 0.00422
NM_000037.4(ANK1):c.1506C>T (p.Ala502=) rs34387324 0.00407
NM_000037.4(ANK1):c.2403G>A (p.Lys801=) rs147130318 0.00376
NM_000037.4(ANK1):c.2735+10G>A rs75296105 0.00374
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.*8C>A rs146341756 0.00209
NM_000037.4(ANK1):c.2197-17G>A rs188360816 0.00183
NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr) rs35797405 0.00170
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.5479-17T>C rs142836307 0.00138
NM_000037.4(ANK1):c.3532+13C>A rs181905023 0.00122
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.3102C>T (p.Asn1034=) rs145169484 0.00101
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.1153C>T (p.Arg385Cys) rs142626656 0.00067
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.4448T>G (p.Leu1483Arg) rs141408004 0.00043
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_000037.4(ANK1):c.3229G>C (p.Gly1077Arg) rs200263785 0.00022
NM_000037.4(ANK1):c.499G>C (p.Gly167Arg) rs201024919 0.00021
NM_001142446.2(ANK1):c.127-39556C>T rs907195146 0.00020
NM_000037.4(ANK1):c.3955C>T (p.Arg1319Trp) rs113948846 0.00019
NM_000037.4(ANK1):c.4099G>A (p.Ala1367Thr) rs148620640 0.00019
NM_000037.4(ANK1):c.5614C>T (p.Arg1872Trp) rs145235970 0.00014
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.5051C>T (p.Thr1684Ile) rs376601712 0.00006
NM_000037.4(ANK1):c.1197G>A (p.Ala399=) rs756075877 0.00005
NM_000037.4(ANK1):c.1800+3A>T rs559020131 0.00004
NM_000037.4(ANK1):c.2688C>T (p.Thr896=) rs377333429 0.00004
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.3770G>A (p.Arg1257His) rs777970142 0.00003
NM_000037.4(ANK1):c.639G>A (p.Ala213=) rs766500460 0.00003
NM_000037.4(ANK1):c.2352C>T (p.Asp784=) rs751238125 0.00002
NM_000037.4(ANK1):c.3601G>A (p.Ala1201Thr) rs139513895 0.00002
NM_000037.4(ANK1):c.1117A>T (p.Thr373Ser) rs779654741 0.00001
NM_000037.4(ANK1):c.1265A>T (p.Asn422Ile) rs768063027 0.00001
NM_000037.4(ANK1):c.1602+18G>A rs764064612 0.00001
NM_000037.4(ANK1):c.237C>T (p.Asn79=) rs372696694 0.00001
NM_000037.4(ANK1):c.2899G>A (p.Glu967Lys) rs770345014 0.00001
NM_000037.4(ANK1):c.4023G>A (p.Ser1341=) rs371816885 0.00001
NM_000037.4(ANK1):c.4153C>T (p.Arg1385Ter) rs750820522 0.00001
NM_000037.4(ANK1):c.4462C>T (p.Arg1488Ter) rs777701149 0.00001
NM_000037.4(ANK1):c.5395-1080C>T rs143349452 0.00001
NM_000037.4(ANK1):c.5395-1157A>T rs1204104038 0.00001
NM_000037.4(ANK1):c.5598G>A (p.Gly1866=) rs775251229 0.00001
NM_000037.4(ANK1):c.649G>A (p.Glu217Lys) rs886062942 0.00001
NM_000037.4(ANK1):c.947A>G (p.Asp316Gly) rs760321571 0.00001
NM_000037.4(ANK1):c.1124T>G (p.Leu375Ter) rs2150641057
NM_000037.4(ANK1):c.1135del (p.Cys379fs) rs2150641017
NM_000037.4(ANK1):c.1207-6T>C
NM_000037.4(ANK1):c.1277G>A (p.Arg426Gln) rs776721065
NM_000037.4(ANK1):c.1438del (p.Ile480fs)
NM_000037.4(ANK1):c.1519dup (p.Leu507fs) rs397514029
NM_000037.4(ANK1):c.1657G>T (p.Glu553Ter)
NM_000037.4(ANK1):c.1659G>A (p.Glu553=)
NM_000037.4(ANK1):c.1702-2A>G rs1554567249
NM_000037.4(ANK1):c.1702-3_1710del rs1826992833
NM_000037.4(ANK1):c.1771C>G (p.Arg591Gly) rs754903343
NM_000037.4(ANK1):c.1800+1del
NM_000037.4(ANK1):c.1801-17G>A rs786205243
NM_000037.4(ANK1):c.1891G>T (p.Glu631Ter) rs1825406258
NM_000037.4(ANK1):c.1998+5G>A rs946534987
NM_000037.4(ANK1):c.2029C>T (p.Gln677Ter) rs1563502820
NM_000037.4(ANK1):c.2102del (p.Gly701fs) rs2150612978
NM_000037.4(ANK1):c.2164C>T (p.Gln722Ter) rs747701761
NM_000037.4(ANK1):c.2258T>C (p.Leu753Pro) rs1823867456
NM_000037.4(ANK1):c.2294C>T (p.Ser765Leu)
NM_000037.4(ANK1):c.2296-2A>C
NM_000037.4(ANK1):c.2296-2A>G
NM_000037.4(ANK1):c.2389-1G>A rs1822828039
NM_000037.4(ANK1):c.2395A>C (p.Ser799Arg)
NM_000037.4(ANK1):c.2461+20C>T
NM_000037.4(ANK1):c.2508T>A (p.Asp836Glu) rs776018872
NM_000037.4(ANK1):c.2637G>A (p.Gln879=)
NM_000037.4(ANK1):c.265G>A (p.Gly89Arg)
NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter) rs2150597061
NM_000037.4(ANK1):c.2810T>C (p.Val937Ala) rs1586181590
NM_000037.4(ANK1):c.2913G>C (p.Leu971=) rs504574
NM_000037.4(ANK1):c.2972T>G (p.Val991Gly) rs1820556702
NM_000037.4(ANK1):c.3092_3095del (p.Gln1031fs) rs1820512673
NM_000037.4(ANK1):c.3115+18C>T
NM_000037.4(ANK1):c.3115+9G>A rs150850103
NM_000037.4(ANK1):c.3178C>A (p.Pro1060Thr)
NM_000037.4(ANK1):c.3179C>T (p.Pro1060Leu) rs267601925
NM_000037.4(ANK1):c.3202C>T (p.Arg1068Trp) rs1820329178
NM_000037.4(ANK1):c.325C>T (p.Gln109Ter)
NM_000037.4(ANK1):c.3275del (p.Gln1092fs) rs2150593275
NM_000037.4(ANK1):c.327G>A (p.Gln109=)
NM_000037.4(ANK1):c.3327+19G>T rs200871595
NM_000037.4(ANK1):c.3342G>A (p.Pro1114=) rs374102892
NM_000037.4(ANK1):c.344T>C (p.Leu115Pro) rs1586505238
NM_000037.4(ANK1):c.3553T>G (p.Trp1185Gly)
NM_000037.4(ANK1):c.3555G>A (p.Trp1185Ter) rs1586145051
NM_000037.4(ANK1):c.356C>G (p.Ala119Gly) rs2150661855
NM_000037.4(ANK1):c.3717G>A (p.Met1239Ile) rs1819636555
NM_000037.4(ANK1):c.3829G>A (p.Val1277Met) rs148942046
NM_000037.4(ANK1):c.3858+4A>G
NM_000037.4(ANK1):c.3984+10C>T
NM_000037.4(ANK1):c.3984+1G>T
NM_000037.4(ANK1):c.3984+2T>C rs1818974494
NM_000037.4(ANK1):c.409C>T (p.Gln137Ter) rs2150661792
NM_000037.4(ANK1):c.427-2A>G
NM_000037.4(ANK1):c.4306C>T (p.Arg1436Ter) rs1586072383
NM_000037.4(ANK1):c.4391-18T>C
NM_000037.4(ANK1):c.455T>C (p.Leu152Pro)
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=) rs149859024
NM_000037.4(ANK1):c.5233G>A (p.Gly1745Ser)
NM_000037.4(ANK1):c.5298del (p.Glu1767fs)
NM_000037.4(ANK1):c.5395-1286C>T
NM_000037.4(ANK1):c.5436_5437insCAGGG (p.Glu1813fs) rs2150548107
NM_000037.4(ANK1):c.5530C>T (p.Gln1844Ter)
NM_000037.4(ANK1):c.659A>G (p.Asn220Ser)
NM_000037.4(ANK1):c.758T>G (p.Ile253Ser) rs770333748
NM_000037.4(ANK1):c.813C>T (p.Asp271=)
NM_000037.4(ANK1):c.830A>C (p.His277Pro) rs1829714663
NM_000037.4(ANK1):c.841C>T (p.Arg281Ter) rs1829712320
NM_000037.4(ANK1):c.856C>T (p.Arg286Ter) rs2150651762
NM_000037.4(ANK1):c.931A>G (p.Met311Val) rs2150644664
NM_000037.4(ANK1):c.935C>A (p.Ala312Glu) rs1036457270

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