ClinVar Miner

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

Included ClinVar conditions (258):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_000064.3(C3):c.3908G>A (p.Arg1303His) rs775015499
NM_000186.3(CFH):c.3542T>C (p.Leu1181Ser)
NM_000186.3(CFH):c.58G>A (p.Asp20Asn) rs1553270437
NM_000204.4(CFI):c.1165C>T (p.Arg389Cys)
NM_000204.4(CFI):c.310G>A (p.Gly104Arg) rs200419722
NM_000517.4:c.268_280delCACAAGCTTCGGG
NM_001081.3(CUBN):c.3473G>A (p.Trp1158Ter)
NM_001081.3(CUBN):c.4921del (p.Tyr1641Ilefs)
NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter)
NM_001081.3(CUBN):c.5511dup (p.Gly1838Trpfs) rs1168074679
NM_001081.3(CUBN):c.5549-2A>C
NM_001081.3(CUBN):c.6125-2A>G rs75386064
NM_001081.3(CUBN):c.9949C>T (p.Gln3317Ter)
NM_002389.4(CD46):c.604C>T (p.Leu202Phe)
NM_002389.4(CD46):c.685C>T (p.Arg229Ter) rs1553251787
NM_003647.2(DGKE):c.1169G>A (p.Arg390His) rs1060499709
NM_003647.2(DGKE):c.178C>G (p.His60Asp) rs1482608926
NM_003647.3(DGKE):c.1442dup (p.Val482Serfs)

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