ClinVar Miner

List of variants reported as likely pathogenic for anemia due to enzyme disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (16):

Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Charcot-Marie-Tooth disease type 4G; Hemolytic anemia due to hexokinase deficiency; Retinitis pigmentosa 79
Charcot-Marie-Tooth disease type 4G; Hemolytic anemia due to hexokinase deficiency; Retinitis pigmentosa 79; Neurodevelopmental disorder with visual defects and brain anomalies
Cutaneous porphyria
Deficiency of bisphosphoglycerate mutase
G6PD deficiency; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Glycogen storage disease, type VII
HNSHA due to aldolase A deficiency
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Hemolytic anemia due to glucophosphate isomerase deficiency
Hemolytic anemia due to hexokinase deficiency
Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Pyruvate kinase deficiency of red cells
Pyruvate kinase hyperactivity; Pyruvate kinase deficiency of red cells
Syndromic X-linked intellectual disability Najm type; FG syndrome 4; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Triosephosphate isomerase 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)
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_000298.6(PKLR):c.391_393del (p.Ile131del)	rs886045351

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