ClinVar Miner

List of variants studied for anemia, nonspherocytic hemolytic by Courtagen Diagnostics Laboratory, Courtagen Life Sciences

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
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000402.4(G6PD):c.934G>C (p.Asp312His)	rs137852318	0.00072
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_000402.4(G6PD):c.727G>T (p.Val243Leu)	rs137852326

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