ClinVar Miner

List of variants reported as pathogenic for Fanconi anemia by Mendelics

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter)
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.456+4A>T rs104886456
NM_000136.3(FANCC):c.519del (p.Arg173fs) rs1564719070
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.2(BRIP1):c.2990_2993delCAAA rs771028677
NM_032043.2(BRIP1):c.30del (p.Ile10fs) rs1567878234

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