ClinVar Miner

List of variants reported as pathogenic for anemia (disease) by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_000135.4(FANCA):c.1111_1114TTGG[1] (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter) rs149551759
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.2151+1G>A rs1555548428
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.4(FANCA):c.2601+1G>T rs1188581065
NM_000253.3(MTTP):c.704_705CA[2] (p.His236fs) rs1553926818
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_001029.5(RPS26):c.55C>T (p.Gln19Ter) rs797045919
NM_001099274.3(TINF2):c.845G>A (p.Arg282His) rs121918544
NM_001113378.1(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873
NM_002582.4(PARN):c.1257dup (p.Asn420Ter) rs942538351
NM_002582.4(PARN):c.24del (p.Phe8fs) rs1555512179
NM_005373.2(MPL):c.1544G>T (p.Trp515Leu) rs121913615
NM_005373.2(MPL):c.235_236del (p.Leu79fs) rs587778514
NM_005373.2(MPL):c.972del (p.Arg325fs) rs770457041
NM_016038.2(SBDS):c.183_184delTAinsCT (p.Lys62Ter) rs113993991
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_016434.3(RTEL1):c.1135+1G>A rs1555903332
NM_016434.3(RTEL1):c.3370del (p.His1124fs) rs1555814400
NM_018062.3(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294
NM_018062.3(FANCL):c.1096_1099dup (p.Thr367fs) rs759217526
NM_024675.3(PALB2):c.755_756CT[1] (p.Leu253fs) rs180177092
NM_032957.4(RTEL1):c.3028C>T rs373740199
NM_033084.5(FANCD2):c.1201del (p.Arg401fs) rs1553608812
NM_182916.3(TRNT1):c.1252dup (p.Ser418fs) rs876661298
NM_198253.2(TERT):c.2146G>A (p.Ala716Thr) rs387907249
NM_198253.2(TERT):c.579_580delinsTT (p.Arg194Ter) rs1554043041

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