ClinVar Miner

List of variants reported as pathogenic for aplastic anemia by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (107):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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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_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_001114636.1(FANCL):c.1022_1024del (p.Ile341_Cys342delinsSer) rs747253294
NM_001114636.1(FANCL):c.1111_1114dup (p.Thr372fs) rs759217526
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_024675.4(PALB2):c.755_756CT[1] (p.Leu253fs) rs180177092
NM_032957.4(RTEL1):c.1207+1G>A rs1555903332
NM_032957.4(RTEL1):c.3028C>T rs373740199
NM_032957.4(RTEL1):c.3442del (p.His1148fs) rs1555814400
NM_033084.5(FANCD2):c.1201del (p.Arg401fs) rs1553608812
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr) rs387907249
NM_198253.3(TERT):c.579_580delinsTT (p.Arg194Ter) rs1554043041

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