ClinVar Miner

List of variants reported as likely pathogenic for anemia by Lifecell International Pvt. Ltd

Included ClinVar conditions (288):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.298T>C (p.Tyr100His) rs137852349 0.00002
NM_001360016.2(G6PD):c.551C>T (p.Ser184Phe) rs782315572 0.00001
NM_004629.2(FANCG):c.1761-2A>C rs765150956 0.00001
NM_001376013.1(EPB41):c.768G>A (p.Trp256Ter)

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