ClinVar Miner

List of variants in gene FANCL reported as pathogenic for aplastic anemia

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
FANCL, 3-BP DEL, 1007TAT
FANCL, 4-BP DUP, 1095AATT
NM_001114636.1(FANCL):c.211C>T (p.Gln71Ter) rs753105795
NM_001114636.1(FANCL):c.268del (p.Leu90fs) rs869320684
NM_001114636.1(FANCL):c.40dup (p.Leu14fs) rs761039364
NM_001114636.1(FANCL):c.426_438del (p.Asp142fs) rs878855046
NM_001114636.1(FANCL):c.430del (p.Ser144fs) rs869320685
NM_018062.4(FANCL):c.296_297del (p.Gln99fs) rs779544327
NM_018062.4(FANCL):c.36C>A (p.Cys12Ter)
NM_018062.4(FANCL):c.375-2033C>G

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