ClinVar Miner

List of variants in gene ANK1 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_001142446.2(ANK1):c.127-39554G>A rs183894680 0.01664
NM_000037.4(ANK1):c.4153C>T (p.Arg1385Ter) rs750820522 0.00001
NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter) rs137852831 0.00001
NC_000008.10:g.(?_41525765)_(41526102_?)del
NC_000008.10:g.(?_41542042)_(41615675_?)del
NC_000008.11:g.41723224del
NM_000037.4(ANK1):c.-73_-72del rs786205242
NM_000037.4(ANK1):c.1039del (p.His347fs)
NM_000037.4(ANK1):c.1122del (p.Leu375fs)
NM_000037.4(ANK1):c.1124T>G (p.Leu375Ter) rs2150641057
NM_000037.4(ANK1):c.1175del (p.Lys392fs)
NM_000037.4(ANK1):c.1305+1G>A
NM_000037.4(ANK1):c.1365T>G (p.Tyr455Ter)
NM_000037.4(ANK1):c.1378A>T (p.Lys460Ter)
NM_000037.4(ANK1):c.1427_1430dup (p.Ala478fs) rs2150635518
NM_000037.4(ANK1):c.1438del (p.Ile480fs)
NM_000037.4(ANK1):c.1488dup (p.Asn497fs)
NM_000037.4(ANK1):c.1519del (p.Leu507fs)
NM_000037.4(ANK1):c.1519dup (p.Leu507fs) rs397514029
NM_000037.4(ANK1):c.1549G>T (p.Glu517Ter) rs2150635175
NM_000037.4(ANK1):c.1602+1G>C
NM_000037.4(ANK1):c.1657G>T (p.Glu553Ter)
NM_000037.4(ANK1):c.165del (p.Gly56fs)
NM_000037.4(ANK1):c.1801-17G>A rs786205243
NM_000037.4(ANK1):c.1872T>A (p.Tyr624Ter)
NM_000037.4(ANK1):c.1891G>T (p.Glu631Ter) rs1825406258
NM_000037.4(ANK1):c.1900C>T (p.Gln634Ter)
NM_000037.4(ANK1):c.1915del (p.Leu639fs)
NM_000037.4(ANK1):c.2029C>T (p.Gln677Ter) rs1563502820
NM_000037.4(ANK1):c.202G>T (p.Glu68Ter)
NM_000037.4(ANK1):c.2098-1G>T rs2150612992
NM_000037.4(ANK1):c.2102del (p.Gly701fs) rs2150612978
NM_000037.4(ANK1):c.2152A>T (p.Lys718Ter)
NM_000037.4(ANK1):c.2164C>T (p.Gln722Ter) rs747701761
NM_000037.4(ANK1):c.2199del (p.Gly734fs)
NM_000037.4(ANK1):c.2221del (p.Ala741fs)
NM_000037.4(ANK1):c.2296-2A>G
NM_000037.4(ANK1):c.2389-1G>A rs1822828039
NM_000037.4(ANK1):c.2390_2393del
NM_000037.4(ANK1):c.2393_2403del (p.Val798fs) rs2150605957
NM_000037.4(ANK1):c.2394_2397del (p.Ser799fs) rs2150605978
NM_000037.4(ANK1):c.2559-1G>A
NM_000037.4(ANK1):c.2736-1G>A rs886042022
NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter) rs2150597061
NM_000037.4(ANK1):c.2947del (p.Ala983fs) rs2150596718
NM_000037.4(ANK1):c.2961-2A>G rs2150594692
NM_000037.4(ANK1):c.3016_3022dup (p.Val1008fs) rs2150594539
NM_000037.4(ANK1):c.3037_3038del (p.Asn1013fs)
NM_000037.4(ANK1):c.3073G>T (p.Gly1025Ter)
NM_000037.4(ANK1):c.3081C>G (p.Ser1027Arg)
NM_000037.4(ANK1):c.3092_3095del (p.Gln1031fs) rs1820512673
NM_000037.4(ANK1):c.3106dup (p.Met1036fs)
NM_000037.4(ANK1):c.312del (p.Asn105fs)
NM_000037.4(ANK1):c.3157C>T (p.Arg1053Ter) rs2150593517
NM_000037.4(ANK1):c.319C>T (p.Gln107Ter)
NM_000037.4(ANK1):c.325C>T (p.Gln109Ter)
NM_000037.4(ANK1):c.3275del (p.Gln1092fs) rs2150593275
NM_000037.4(ANK1):c.3325C>T (p.Gln1109Ter) rs2150593157
NM_000037.4(ANK1):c.3408_3427del (p.Arg1137fs) rs1554544862
NM_000037.4(ANK1):c.3476_3477insAG (p.Arg1160fs)
NM_000037.4(ANK1):c.3504_3514del (p.Ser1169fs)
NM_000037.4(ANK1):c.3555G>A (p.Trp1185Ter) rs1586145051
NM_000037.4(ANK1):c.358C>T (p.Gln120Ter) rs2150661848
NM_000037.4(ANK1):c.3629+1G>C
NM_000037.4(ANK1):c.3629+2T>C rs2150590331
NM_000037.4(ANK1):c.3639_3649dup (p.Pro1217fs)
NM_000037.4(ANK1):c.3656del (p.Thr1219fs)
NM_000037.4(ANK1):c.371T>A (p.Leu124Ter)
NM_000037.4(ANK1):c.3754C>T (p.Arg1252Ter)
NM_000037.4(ANK1):c.382_386del (p.Lys128fs) rs2150661824
NM_000037.4(ANK1):c.3850del (p.Asp1284fs) rs2150589472
NM_000037.4(ANK1):c.3893_3894del (p.Ser1298fs)
NM_000037.4(ANK1):c.389del (p.Leu130fs)
NM_000037.4(ANK1):c.390dup (p.Leu131fs)
NM_000037.4(ANK1):c.3925C>T (p.Gln1309Ter)
NM_000037.4(ANK1):c.3946C>T (p.Gln1316Ter)
NM_000037.4(ANK1):c.3983del (p.Lys1328fs)
NM_000037.4(ANK1):c.3984+1G>T
NM_000037.4(ANK1):c.3984+2T>C rs1818974494
NM_000037.4(ANK1):c.4000C>T (p.Arg1334Ter) rs1172677213
NM_000037.4(ANK1):c.4040_4041del (p.Met1347fs)
NM_000037.4(ANK1):c.4057C>T (p.Gln1353Ter) rs2150585752
NM_000037.4(ANK1):c.4098C>A (p.Cys1366Ter) rs538989808
NM_000037.4(ANK1):c.409C>T (p.Gln137Ter) rs2150661792
NM_000037.4(ANK1):c.40del (p.Thr14fs)
NM_000037.4(ANK1):c.4129del (p.Arg1377fs)
NM_000037.4(ANK1):c.4140del (p.Leu1382fs)
NM_000037.4(ANK1):c.4157dup (p.Tyr1386Ter)
NM_000037.4(ANK1):c.4204C>T (p.Gln1402Ter)
NM_000037.4(ANK1):c.4262T>A (p.Leu1421Ter)
NM_000037.4(ANK1):c.4306C>T (p.Arg1436Ter) rs1586072383
NM_000037.4(ANK1):c.4336C>T (p.Gln1446Ter)
NM_000037.4(ANK1):c.4376del (p.Gly1459fs)
NM_000037.4(ANK1):c.4387_4390del (p.Asn1463fs)
NM_000037.4(ANK1):c.4541del (p.Tyr1514fs) rs2150563560
NM_000037.4(ANK1):c.4744del (p.Asp1582fs)
NM_000037.4(ANK1):c.4747del (p.Ser1583fs)
NM_000037.4(ANK1):c.4800G>A (p.Trp1600Ter)
NM_000037.4(ANK1):c.4819_4820del (p.Ser1607fs)
NM_000037.4(ANK1):c.4840G>T (p.Glu1614Ter)
NM_000037.4(ANK1):c.5005G>T (p.Glu1669Ter) rs137852829
NM_000037.4(ANK1):c.5044C>T (p.Arg1682Ter)
NM_000037.4(ANK1):c.5071C>T (p.Gln1691Ter)
NM_000037.4(ANK1):c.5097-33G>A
NM_000037.4(ANK1):c.5152C>T (p.Gln1718Ter) rs1554522035
NM_000037.4(ANK1):c.5163G>A (p.Trp1721Ter) rs137852830
NM_000037.4(ANK1):c.5167G>T (p.Glu1723Ter)
NM_000037.4(ANK1):c.5192C>G (p.Ser1731Ter)
NM_000037.4(ANK1):c.5197C>T (p.Gln1733Ter)
NM_000037.4(ANK1):c.5285G>A (p.Trp1762Ter)
NM_000037.4(ANK1):c.5298del (p.Glu1767fs)
NM_000037.4(ANK1):c.5422del (p.Glu1808fs)
NM_000037.4(ANK1):c.5436_5437insCAGGG (p.Glu1813fs) rs2150548107
NM_000037.4(ANK1):c.5504_5507del (p.Ile1835fs)
NM_000037.4(ANK1):c.5530C>T (p.Gln1844Ter)
NM_000037.4(ANK1):c.629del (p.Leu210fs)
NM_000037.4(ANK1):c.682A>T (p.Arg228Ter)
NM_000037.4(ANK1):c.814G>T (p.Glu272Ter)
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.886del (p.Ala296fs)

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