ClinVar Miner

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

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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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_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_024675.3(PALB2):c.757_758delCT rs180177092
NM_033084.5(FANCD2):c.1201del (p.Arg401fs) rs1553608812

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