ClinVar Miner

List of variants reported as pathogenic for aplastic anemia by Mendelics

Included ClinVar conditions (107):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000135.4(FANCA):c.236_239del (p.Asp79fs)
NM_000135.4(FANCA):c.275C>G (p.Ser92Ter)
NM_000136.3(FANCC):c.1257del (p.Thr420fs)
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter) rs1035139114
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_002582.4(PARN):c.948_949del (p.Val318fs)
NM_018062.4(FANCL):c.296_297del (p.Gln99fs)
NM_032043.2(BRIP1):c.2990_2993delCAAA rs771028677
NM_032043.2(BRIP1):c.30del (p.Ile10fs) rs1567878234
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032444.4(SLX4):c.4391_4403del (p.Ser1464fs)
NM_032444.4(SLX4):c.4405del (p.Ser1469fs)
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs) rs1555602141

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