ClinVar Miner

List of variants reported as pathogenic for X-linked Mendelian susceptibility to mycobacterial diseases by OMIM

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn) rs179363896 0.00715
NM_001099857.5(IKBKG):c.169G>A (p.Glu57Lys) rs148695964 0.00158
NM_000397.4(CYBB):c.532A>C (p.Thr178Pro) rs151344497
NM_000397.4(CYBB):c.692A>C (p.Gln231Pro) rs151344498
NM_001099857.5(IKBKG):c.-16+344G>C rs2070806148
NM_001099857.5(IKBKG):c.1056-1G>A rs2148385355
NM_001099857.5(IKBKG):c.111dup (p.Met38fs) rs1569556522
NM_001099857.5(IKBKG):c.239T>C (p.Leu80Pro) rs2071059718
NM_001099857.5(IKBKG):c.517C>G (p.Arg173Gly) rs179363866
NM_001099857.5(IKBKG):c.811_828del (p.Glu271_Ala276del) rs2071141016
NM_001099857.5(IKBKG):c.944A>C (p.Glu315Ala) rs137853331
NM_001099857.5(IKBKG):c.956G>A (p.Arg319Gln) rs137853332

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