ClinVar Miner

List of variants studied for X-linked Mendelian susceptibility to mycobacterial diseases by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg) rs141756032 0.00371
NM_000397.4(CYBB):c.1414G>A (p.Gly472Ser) rs13306300 0.00018
NM_000397.4(CYBB):c.662T>C (p.Ile221Thr) rs782096963 0.00002
NM_000397.4(CYBB):c.772C>G (p.Pro258Ala) rs1384465552 0.00001
NM_000397.4(CYBB):c.1291G>A (p.Ala431Thr) rs1929532655
NM_000397.4(CYBB):c.252G>A (p.Ala84=) rs387906485
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs) rs782178147

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