ClinVar Miner

List of variants studied for anemia by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001355436.2(SPTB):c.2519G>A (p.Arg840His) rs146326769 0.00065
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000969.5(RPL5):c.169_172del (p.Asn57fs) rs1558284033
NM_001022.4(RPS19):c.367_368dup (p.Leu123_Thr124insTer) rs1568796003
NM_001142864.4(PIEZO1):c.2165C>T (p.Pro722Leu)
NM_001360016.2(G6PD):c.859G>A (p.Glu287Lys) rs387906471

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