ClinVar Miner

List of variants reported as uncertain significance for X-linked Mendelian susceptibility to mycobacterial diseases

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000397.4(CYBB):c.969A>G (p.Gln323=) rs144764222 0.00012
NM_001360016.2(G6PD):c.120+3646C>T rs782367664 0.00003
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.728T>C (p.Val243Ala)
NM_001099857.5(IKBKG):c.399+6C>T rs1557236080
NM_001099857.5(IKBKG):c.760C>G (p.Arg254Gly) rs2148383298

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