ClinVar Miner

List of variants reported as pathogenic for aplastic anemia by Mendelics

Included ClinVar conditions (98):
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ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_018062.4(FANCL):c.296_297del (p.Gln99fs) rs779544327 0.00007
NM_001018115.3(FANCD2):c.3777+1G>T rs1434069831 0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
NM_000135.4(FANCA):c.236_239del (p.Asp79fs) rs1336033143
NM_000135.4(FANCA):c.275C>G (p.Ser92Ter) rs1183559927
NM_000136.3(FANCC):c.1257del (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1257dup (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter) rs1035139114
NM_000136.3(FANCC):c.1653dup (p.Lys552Ter) rs2134382250
NM_000136.3(FANCC):c.259C>T (p.Gln87Ter) rs2136049646
NM_000136.3(FANCC):c.338G>A (p.Trp113Ter) rs1064793405
NM_000136.3(FANCC):c.519del (p.Arg173fs) rs1564719070
NM_000969.5(RPL5):c.169_172del (p.Asn57fs) rs1558284033
NM_001018115.3(FANCD2):c.1279-1G>A rs1294791314
NM_002641.4(PIGA):c.145G>A (p.Val49Met) rs1569180100
NM_002641.4(PIGA):c.350T>C (p.Phe117Ser) rs2147723760
NM_005373.3(MPL):c.1653+1del rs755257605
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.30del (p.Ile10fs) rs1567878234
NM_032444.4(SLX4):c.4391_4403del (p.Ser1464fs) rs1596519879
NM_032444.4(SLX4):c.4405del (p.Ser1469fs) rs1596519854
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs) rs1555602141

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