ClinVar Miner

List of variants reported as pathogenic for anemia, nonspherocytic hemolytic by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Included ClinVar conditions (4):

Anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD deficiency; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Syndromic X-linked intellectual disability Najm type; FG syndrome 4; Anemia, nonspherocytic hemolytic, due to G6PD deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)	rs1050829	0.08672
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)	rs398123546	0.00014

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