ClinVar Miner

List of variants reported as uncertain significance 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: 18
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HGVS dbSNP
NM_000064.4(C3):c.769G>A (p.Ala257Thr) rs200918899
NM_000186.3(CFH):c.1336+4A>G
NM_000186.3(CFH):c.59-10T>G
NM_000204.4(CFI):c.1709G>C (p.Ser570Thr) rs200973120
NM_000204.4(CFI):c.205A>G (p.Lys69Glu) rs771325547
NM_000204.4(CFI):c.209A>C (p.Asn70Thr)
NM_000361.2(THBD):c.1712C>T (p.Thr571Met) rs1166732867
NM_000518.5(HBB):c.-25T>C rs886039874
NM_001081.3(CUBN):c.349C>A (p.Leu117Met)
NM_001081.3(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940
NM_001081.3(CUBN):c.6225G>A (p.Ser2075=) rs75737363
NM_001081.3(CUBN):c.7797C>G (p.Cys2599Trp) rs138758085
NM_001081.3(CUBN):c.9053A>C (p.Tyr3018Ser) rs370778353
NM_001081.3(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444
NM_001081.3(CUBN):c.9922T>C (p.Trp3308Arg) rs752843169
NM_001710.5(CFB):c.1217G>A (p.Arg406Gln) rs1057516209
NM_001710.5(CFB):c.1407C>G (p.Ile469Met) rs201798809
NM_001710.5(CFB):c.1861G>A (p.Glu621Lys) rs573842877

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