ClinVar Miner

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

Included ClinVar conditions (263):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP
NM_000064.4(C3):c.3908G>A (p.Arg1303His) rs775015499
NM_000064.4(C3):c.769G>A (p.Ala257Thr) rs200918899
NM_000135.4(FANCA):c.2778+1G>A
NM_000186.3(CFH):c.1126C>T (p.Gln376Ter)
NM_000186.3(CFH):c.1318_1327del (p.Pro440fs) rs1558162157
NM_000186.3(CFH):c.1336+4A>G
NM_000186.3(CFH):c.2950T>C (p.Cys984Arg) rs886039869
NM_000186.3(CFH):c.3542T>C (p.Leu1181Ser)
NM_000186.3(CFH):c.58G>A (p.Asp20Asn) rs1553270437
NM_000186.3(CFH):c.59-10T>G
NM_000186.3(CFH):c.710_711del (p.Lys236_Cys237insTer) rs1553273733
NM_000204.4(CFI):c.1165C>T (p.Arg389Cys)
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_000204.4(CFI):c.310G>A (p.Gly104Arg) rs200419722
NM_000361.2(THBD):c.1712C>T (p.Thr571Met) rs1166732867
NM_000517.6(HBA2):c.268_280del (p.His90fs)
NM_000518.5(HBB):c.-25T>C rs886039874
NM_001081.3(CUBN):c.3473G>A (p.Trp1158Ter) rs1564492988
NM_001081.3(CUBN):c.349C>A (p.Leu117Met)
NM_001081.3(CUBN):c.4921del (p.Tyr1641fs) rs1564443979
NM_001081.3(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940
NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter)
NM_001081.3(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.3(CUBN):c.5549-2A>C rs1564435513
NM_001081.3(CUBN):c.5600del (p.Phe1867fs) rs747417629
NM_001081.3(CUBN):c.6125-2A>G rs75386064
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.9524C>A (p.Ser3175Ter) rs368697251
NM_001081.3(CUBN):c.9922T>C (p.Trp3308Arg) rs752843169
NM_001081.3(CUBN):c.9949C>T (p.Gln3317Ter) rs1564379463
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
NM_002389.4(CD46):c.404del (p.Gly135fs)
NM_002389.4(CD46):c.542_543del (p.Val180_Phe181insTer) rs1057516191
NM_002389.4(CD46):c.604C>T (p.Leu202Phe) rs750324925
NM_002389.4(CD46):c.685C>T (p.Arg229Ter) rs1553251787
NM_002389.4(CD46):c.776del (p.Gly259fs) rs886039868
NM_003647.3(DGKE):c.1009C>T (p.Arg337Ter) rs762576212
NM_003647.3(DGKE):c.1169G>A (p.Arg390His) rs1060499709
NM_003647.3(DGKE):c.1376G>A (p.Trp459Ter) rs1060499708
NM_003647.3(DGKE):c.1442dup (p.Val482fs)
NM_003647.3(DGKE):c.178C>G (p.His60Asp) rs1482608926
NM_003647.3(DGKE):c.610dup (p.Thr204fs)
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442

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