List of variants studied for Granulomatous disease, chronic, X-linked by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_000397.4(CYBB):c.654C>A (p.Gly218=)	rs35080474	0.00303
NM_000397.4(CYBB):c.338-13C>T	rs193922447	0.00064
NM_000397.4(CYBB):c.66C>T (p.Asn22=)	rs193922450	0.00009
NM_000397.4(CYBB):c.1662dup (p.Glu555Ter)	rs1453468510	0.00001
NM_000397.4(CYBB):c.676C>T (p.Arg226Ter)	rs137854592	0.00001
NM_000397.4(CYBB):c.1085C>T (p.Thr362Ile)	rs1569479953
NM_000397.4(CYBB):c.1140dup (p.Lys381fs)	rs193922445
NM_000397.4(CYBB):c.1314+19C>T	rs34834015
NM_000397.4(CYBB):c.1415del (p.Gly472fs)	rs1929563459
NM_000397.4(CYBB):c.15del (p.Ala5_Val6insTer)	rs193922446
NM_000397.4(CYBB):c.1601T>A (p.Val534Asp)	rs151344478
NM_000397.4(CYBB):c.1609T>C (p.Cys537Arg)	rs151344454
NM_000397.4(CYBB):c.1629_1630delinsCT (p.Glu544Ter)	rs2146822029
NM_000397.4(CYBB):c.252G>A (p.Ala84=)	rs387906485
NM_000397.4(CYBB):c.253-1G>C
NM_000397.4(CYBB):c.302A>G (p.His101Arg)	rs137854591
NM_000397.4(CYBB):c.388C>T (p.Arg130Ter)	rs180899069
NM_000397.4(CYBB):c.389G>C (p.Arg130Pro)	rs193922448
NM_000397.4(CYBB):c.483+1G>T	rs1131691828
NM_000397.4(CYBB):c.607G>T (p.Glu203Ter)	rs193922449
NM_000397.4(CYBB):c.674+4_674+7del	rs1057517730
NM_000397.4(CYBB):c.742dup (p.Ile248fs)	rs886041194
NM_000397.4(CYBB):c.80_83del (p.Val27fs)	rs1556464554
NM_000397.4(CYBB):c.840T>A (p.Tyr280Ter)	rs1929432929
NM_000397.4(CYBB):c.925G>A (p.Glu309Lys)	rs151344466

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