ClinVar Miner

List of variants studied for anemia (disease) by Inserm U 954, Faculté de Médecine de Nancy

Included ClinVar conditions (258):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000355.3(TCN2):c.626C>G (p.Ser209Ter) rs796064505
NM_000355.3(TCN2):c.927_930del (p.Cys309Trpfs) rs1157135425
NM_001081.3(CUBN):c.1000C>T (p.Gln334Ter) rs561240556
NM_005142.2(CBLIF):c.-376A>T rs796064509
NM_005142.2(CBLIF):c.346C>T (p.Gln116Ter) rs796064508
NM_005142.2(CBLIF):c.435_437delGAA (p.Lys145del) rs770530971
NM_015506.2(MMACHC):c.420G>A (p.Trp140Ter) rs796051996
NM_015506.2(MMACHC):c.766_771delGCCCCC (p.Ala256_Pro257del) rs796064513
NM_030943.3(AMN):c.208-2A>G rs386834170
NM_030943.3(AMN):c.742C>T (p.Gln248Ter) rs386834177

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