ClinVar Miner

List of variants reported as pathogenic for anemia, nonspherocytic hemolytic by Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)

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.292G>A (p.Val98Met)	rs1050828	0.03616
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)	rs5030869	0.00003

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