ClinVar Miner

List of variants reported as benign for Fanconi anemia by Counsyl

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_032043.2(BRIP1):c.1141-94G>T rs114901675
NM_032043.2(BRIP1):c.1433A>G (p.His478Arg) rs45501097
NM_032043.2(BRIP1):c.206-21T>C rs2048717
NM_032043.2(BRIP1):c.2236A>G (p.Ile746Val) rs111536363
NM_032043.2(BRIP1):c.2257+19A>C rs77851913
NM_032043.2(BRIP1):c.2637A>G (p.Glu879=) rs4986765
NM_032043.2(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764
NM_032043.2(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763
NM_032043.2(BRIP1):c.430G>A (p.Ala144Thr) rs116952709
NM_032043.2(BRIP1):c.577G>A (p.Val193Ile) rs4988346
NM_032043.2(BRIP1):c.918+15T>A rs117820198
NM_058216.3(RAD51C):c.146-8A>G rs201079501
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291
NM_058216.3(RAD51C):c.459T>G (p.Gly153=) rs769486350
NM_058216.3(RAD51C):c.90G>A (p.Ala30=) rs115414895

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