ClinVar Miner

List of variants reported as likely pathogenic for aplastic anemia by Mendelics

Included ClinVar conditions (107):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro)
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_001082486.1(ACD):c.137delG (p.Arg46Leufs) rs753666055
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs)
NM_002582.4(PARN):c.692A>G (p.Glu231Gly)
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911
NM_021922.3(FANCE):c.248+2T>C
NM_032043.2(BRIP1):c.205+1del rs1057517648
NM_032043.2(BRIP1):c.3260dup (p.Asn1087fs) rs771654971
NM_032043.2(BRIP1):c.720del (p.Lys240fs) rs1567838246
NM_032043.3(BRIP1):c.1936-2A>C rs878855143
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter)
NM_032444.4(SLX4):c.4881del (p.Thr1628fs)
NM_058216.3(RAD51C):c.1000del (p.Glu334fs) rs1567817415
NM_058216.3(RAD51C):c.656T>C (p.Leu219Ser) rs201529791
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997
NM_058216.3(RAD51C):c.837+2T>C rs1567799943
NM_058216.3(RAD51C):c.853C>T (p.Gln285Ter)

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