ClinVar Miner

List of variants reported as pathogenic for anemia (disease) by Molecular Diagnostics Laboratory, M Health: University of Minnesota

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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NM_000059.3(BRCA2):c.5453C>A (p.Ser1818Ter) rs1566232471
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro) rs1567621042
NM_000135.4(FANCA):c.2317-2A>G rs1567618264
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2529_2530CT[2] (p.Leu845fs) rs763378933
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952
NM_001029.5(RPS26):c.55C>T (p.Gln19Ter) rs797045919
NM_004629.1(FANCG):c.1077-2A>G rs769547477
NM_004629.1(FANCG):c.1158del (p.Ser387fs) rs757418016
NM_004629.1(FANCG):c.313G>T (p.Glu105Ter) rs121434425
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016

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