List of variants in gene G6PD reported as likely pathogenic for disease susceptibility

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)	rs76723693	0.00149
NM_000402.4(G6PD):c.632A>T (p.Asp211Val)	rs5030872	0.00045
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)	rs137852339	0.00026
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)	rs137852331	0.00004
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)	rs137852342	0.00003
NM_000402.4(G6PD):c.944G>A (p.Arg315His)	rs74575103	0.00002
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys)	rs782090947	0.00002
NM_001360016.2(G6PD):c.634A>G (p.Met212Val)	rs782754619	0.00002
NM_001360016.2(G6PD):c.448G>A (p.Val150Ile)	rs1557230573	0.00001
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg)	rs137852317
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)	rs78478128
NM_000402.4(G6PD):c.482G>T (p.Gly161Val)	rs137852341
NM_000402.4(G6PD):c.683G>A (p.Arg228His)	rs137852332
NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp)	rs1557229854
NM_001360016.2(G6PD):c.1028_1029del (p.Tyr343fs)
NM_001360016.2(G6PD):c.1291G>A (p.Val431Met)	rs782098548
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg)	rs78365220
NM_001360016.2(G6PD):c.409C>T (p.Leu137Phe)	rs2523270927
NM_001360016.2(G6PD):c.497G>A (p.Arg166His)	rs2523268414
NM_001360016.2(G6PD):c.679C>G (p.Arg227Gly)
NM_001360016.2(G6PD):c.735_741del (p.Arg246fs)	rs2523266681
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser)	rs2148329890

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