ClinVar Miner

List of variants studied for Fanconi anemia by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_002693.2(POLG):c.3708G>T (p.Gln1236His) rs3087374
NM_032043.2(BRIP1):c.1626C>T (p.Ser542=) rs373709958
NM_032043.2(BRIP1):c.1754C>A (p.Ala585Glu) rs756946068
NM_032043.2(BRIP1):c.1873T>C (p.Ser625Pro) rs935011040
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
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.3099T>C (p.Pro1033=) rs202228407
NM_032043.2(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763
NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys) rs4988345
NM_032043.2(BRIP1):c.584T>C (p.Leu195Pro) rs4988347
NM_032043.3(BRIP1):c.1331G>C (p.Ser444Thr)

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