ClinVar Miner

List of variants reported as pathogenic for anemia (disease) by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (263):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NC_000003.12:g.10073363G>A
NC_000005.10:g.7875314C>T
NM_000059.3(BRCA2):c.631+2T>G rs81002899
NM_000135.4(FANCA):c.983_986TCAC[1] (p.His330fs) rs772359099
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000289.6(PFKM):c.237+1G>A rs202143236
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met) rs144071404
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_001081.3(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001159287.1(TPI1):c.426G>C (p.Glu142Asp) rs121964845
NM_004629.1(FANCG):c.85-2A>T
NM_005142.3(CBLIF):c.79+1G>A rs147785187
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242
NM_016038.2(SBDS):c.183_184delTAinsCT (p.Lys62Ter) rs113993991
NM_016038.4(SBDS):c.258+2T>C rs113993993

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