ClinVar Miner

List of variants reported as likely pathogenic for anemia due to enzyme disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000289.6(PFKM):c.159+1G>T rs1305706304
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) rs137852317

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