ClinVar Miner

List of variants studied for anemia due to erythrocyte enzyme disorder by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000289.6(PFKM):c.237+1G>A rs202143236
NM_000291.4(PGK1):c.1234G>A (p.Asp412Asn) rs782165735
NM_000291.4(PGK1):c.248T>C (p.Val83Ala) rs138851144
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp) rs201217064
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) rs201953584
NM_033500.2(HK1):c.1334C>T (p.Thr445Met) rs1057517928

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