ClinVar Miner

List of variants studied for anemia by Clinical Genomics Laboratory, Washington University in St. Louis

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser) rs141164907 0.00089
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671 0.00001
NM_000186.4(CFH):c.3152C>T (p.Pro1051Leu)
NM_000186.4(CFH):c.3565C>T (p.Leu1189Phe) rs2149118712
NM_001081.4(CUBN):c.6905C>T (p.Pro2302Leu)

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