ClinVar Miner

List of variants in gene combination FANCL, VRK2 reported as likely pathogenic for Fanconi anemia

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NC_000002.11:g.(?_58386890)_(58393019_?)del
NM_001114636.1(FANCL):c.1022_1024del (p.Ile341_Cys342delinsSer) rs747253294
NM_001114636.1(FANCL):c.1064_1065AG[1] (p.Ser356fs) rs750871999
NM_018062.3(FANCL):c.1092+1_1092+5del rs1558727300
NM_018062.3(FANCL):c.692-2A>G rs1558737575

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