ClinVar Miner

List of variants in gene CASK studied for anemia, nonspherocytic hemolytic

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
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001367721.1(CASK):c.2424C>T (p.Tyr808=)	rs779629178	0.00002
NM_001367721.1(CASK):c.2317+5G>A	rs2147095645
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter)	rs886128077

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