ClinVar Miner

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

Included ClinVar conditions (258):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000059.3(BRCA2):c.5453C>A (p.Ser1818Ter)
NM_000135.2(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.2(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.2(FANCA):c.65G>A (p.Trp22Ter) rs761341952
NM_000135.2:c.2533_2536delCTCT
NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro)
NM_000135.4(FANCA):c.2317-2A>G
NM_001029.5(RPS26):c.55C>T (p.Gln19Ter) rs797045919
NM_004629.1(FANCG):c.1077-2A>G rs769547477
NM_004629.1(FANCG):c.1153dup (p.Ser387Leufs)
NM_004629.1(FANCG):c.313G>T (p.Glu105Ter) rs121434425
NM_004629.1:c.1158delC

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