ClinVar Miner

List of variants reported as uncertain significance for anemia by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.6225G>A (p.Ser2075=) rs75737363 0.00192
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser) rs117620008 0.00133
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444 0.00021
NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg) rs752843169 0.00014
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser) rs370778353 0.00009
NM_001081.4(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940 0.00005
NM_000186.4(CFH):c.2900G>A (p.Gly967Glu) rs375951438 0.00002
NM_000186.4(CFH):c.1336+4A>G rs1573028051
NM_000186.4(CFH):c.1699A>G (p.Arg567Gly) rs757756991
NM_000186.4(CFH):c.2794A>C (p.Lys932Gln) rs1573079762
NM_000186.4(CFH):c.59-10T>G rs1573008794
NM_000518.5(HBB):c.-25T>C rs886039874
NM_000518.5(HBB):c.316-369G>A rs1589891886
NM_001081.4(CUBN):c.349C>A (p.Leu117Met) rs1588661287
NM_001081.4(CUBN):c.3929T>C (p.Ile1310Thr) rs1588604587
NM_001081.4(CUBN):c.489+2_489+4dup rs1588658746
NM_001081.4(CUBN):c.7797C>G (p.Cys2599Trp) rs138758085

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