List of variants reported as pathogenic for Hereditary spherocytosis type 1

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 82

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HGVS	dbSNP	gnomAD frequency
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.5497C>T (p.Arg1833Ter)	rs137852831	0.00001
NM_000037.4(ANK1):c.1124T>G (p.Leu375Ter)	rs2150641057
NM_000037.4(ANK1):c.1305+1G>A
NM_000037.4(ANK1):c.1319C>T (p.Pro440Leu)
NM_000037.4(ANK1):c.1365T>G (p.Tyr455Ter)
NM_000037.4(ANK1):c.1427_1430dup (p.Ala478fs)	rs2150635518
NM_000037.4(ANK1):c.1438del (p.Ile480fs)
NM_000037.4(ANK1):c.1519del (p.Leu507fs)
NM_000037.4(ANK1):c.1519dup (p.Leu507fs)	rs397514029
NM_000037.4(ANK1):c.1602+1G>C
NM_000037.4(ANK1):c.1657G>T (p.Glu553Ter)
NM_000037.4(ANK1):c.1702-2A>C	rs1554567249
NM_000037.4(ANK1):c.1702-2A>G	rs1554567249
NM_000037.4(ANK1):c.1702-3_1710del	rs1826992833
NM_000037.4(ANK1):c.1717del (p.Leu573fs)	rs1826989524
NM_000037.4(ANK1):c.1717dup (p.Leu573fs)
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.1915del (p.Leu639fs)
NM_000037.4(ANK1):c.2029C>T (p.Gln677Ter)	rs1563502820
NM_000037.4(ANK1):c.2098-1G>T	rs2150612992
NM_000037.4(ANK1):c.2102del (p.Gly701fs)	rs2150612978
NM_000037.4(ANK1):c.2164C>T (p.Gln722Ter)	rs747701761
NM_000037.4(ANK1):c.2230C>T (p.Gln744Ter)
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.2803C>T (p.Arg935Ter)	rs2150597061
NM_000037.4(ANK1):c.3073G>T (p.Gly1025Ter)
NM_000037.4(ANK1):c.3092_3095del (p.Gln1031fs)	rs1820512673
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.3504_3514del (p.Ser1169fs)
NM_000037.4(ANK1):c.3533-2A>G
NM_000037.4(ANK1):c.3555G>A (p.Trp1185Ter)	rs1586145051
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.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.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.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.4253G>A (p.Trp1418Ter)
NM_000037.4(ANK1):c.4306C>T (p.Arg1436Ter)	rs1586072383
NM_000037.4(ANK1):c.4387_4390del (p.Asn1463fs)
NM_000037.4(ANK1):c.4414C>T (p.Gln1472Ter)	rs1228535558
NM_000037.4(ANK1):c.4541del (p.Tyr1514fs)	rs2150563560
NM_000037.4(ANK1):c.4819_4820del (p.Ser1607fs)
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.5192C>G (p.Ser1731Ter)
NM_000037.4(ANK1):c.5298del (p.Glu1767fs)
NM_000037.4(ANK1):c.534del (p.His178fs)	rs1554578304
NM_000037.4(ANK1):c.5436_5437insCAGGG (p.Glu1813fs)	rs2150548107
NM_000037.4(ANK1):c.5530C>T (p.Gln1844Ter)
NM_000037.4(ANK1):c.6dup (p.Tyr3fs)
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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