ClinVar Miner

List of variants reported as pathogenic for anemia by Reproductive Health Research and Development, BGI Genomics

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021

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