ClinVar Miner

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

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NC_000002.12:g.(?_58159755)_(58165884_?)del
NM_001114636.1(FANCL):c.1022_1024del (p.Ile341_Cys342delinsSer) rs747253294
NM_001114636.1(FANCL):c.1064_1065AG[1] (p.Ser356fs) rs750871999
NM_001114636.1(FANCL):c.1107+1_1107+5del rs1558727300
NM_001114636.1(FANCL):c.1111_1114dup (p.Thr372fs) rs759217526
NM_001114636.1(FANCL):c.707-2A>G rs1558737575
NM_018062.4(FANCL):c.1048_1051del (p.Gln350fs) rs1553433429
NM_018062.4(FANCL):c.739dup (p.Met247fs) rs1573518300

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