ClinVar Miner

List of variants reported as pathogenic for anemia (disease) by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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NM_000186.3(CFH):c.1126C>T (p.Gln376Ter)
NM_000186.3(CFH):c.1318_1327del (p.Pro440fs) rs1558162157
NM_000186.3(CFH):c.2950T>C (p.Cys984Arg) rs886039869
NM_000186.3(CFH):c.710_711del (p.Lys236_Cys237insTer) rs1553273733
NM_001081.3(CUBN):c.5600del (p.Phe1867fs) rs747417629
NM_001081.3(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251
NM_002389.4(CD46):c.404del (p.Gly135fs)
NM_002389.4(CD46):c.542_543del (p.Val180_Phe181insTer) rs1057516191
NM_002389.4(CD46):c.776del (p.Gly259fs) rs886039868
NM_003647.3(DGKE):c.1009C>T (p.Arg337Ter) rs762576212
NM_003647.3(DGKE):c.1376G>A (p.Trp459Ter) rs1060499708
NM_003647.3(DGKE):c.610dup (p.Thr204fs)
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442

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