List of variants reported as likely pathogenic for Granulomatous disease, chronic, X-linked by Labcorp Genetics (formerly Invitae), Labcorp

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000397.4(CYBB):c.1223G>C (p.Gly408Ala)	rs151344474	0.00001
NM_000397.4(CYBB):c.1244C>G (p.Pro415Arg)	rs137854585	0.00001
NC_000023.10:g.(?_37641330)_(37641446_?)del
NC_000023.11:g.(?_37810771)_(37810937_?)del
NM_000397.4(CYBB):c.1081T>A (p.Trp361Arg)
NM_000397.4(CYBB):c.1152-1G>A	rs1929527785
NM_000397.4(CYBB):c.160A>G (p.Arg54Gly)
NM_000397.4(CYBB):c.1610G>T (p.Cys537Phe)
NM_000397.4(CYBB):c.169G>T (p.Ala57Ser)
NM_000397.4(CYBB):c.252+5G>C	rs1602175016
NM_000397.4(CYBB):c.253-8A>G	rs1064793093
NM_000397.4(CYBB):c.301C>T (p.His101Tyr)	rs137854594
NM_000397.4(CYBB):c.424T>C (p.Ser142Pro)	rs2146810272
NM_000397.4(CYBB):c.45+2del	rs1602173465
NM_000397.4(CYBB):c.483+5G>A	rs1929245964
NM_000397.4(CYBB):c.483G>A (p.Lys161=)
NM_000397.4(CYBB):c.769T>C (p.Cys257Arg)	rs2146813743

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