ClinVar Miner

List of variants reported as likely pathogenic for Chronic granulomatous disease, X-linked

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Total variants: 9
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HGVS dbSNP
NM_000397.3(CYBB):c.1085C>T (p.Thr362Ile) rs1569479953
NM_000397.3(CYBB):c.1140dup (p.Lys381fs) rs193922445
NM_000397.3(CYBB):c.1237dup (p.Val413fs) rs1569480031
NM_000397.3(CYBB):c.1315-1G>A rs1556471620
NM_000397.3(CYBB):c.15del (p.Ala5_Val6insTer) rs193922446
NM_000397.3(CYBB):c.37_45+2delTTTGTCATTGT rs1556464116
NM_000397.3(CYBB):c.45+2del
NM_000397.3(CYBB):c.607G>T (p.Glu203Ter) rs193922449
NM_000397.3(CYBB):c.66C>A (p.Asn22Lys) rs193922450

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