ClinVar Miner

List of variants studied for X-linked Mendelian susceptibility to mycobacterial diseases

Included ClinVar conditions (8):
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn) rs179363896 0.00715
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg) rs141756032 0.00371
NM_001099857.5(IKBKG):c.169G>A (p.Glu57Lys) rs148695964 0.00158
NM_000397.4(CYBB):c.1414G>A (p.Gly472Ser) rs13306300 0.00018
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.252G>A (p.Ala84=) rs387906485
NM_000397.4(CYBB):c.532A>C (p.Thr178Pro) rs151344497
NM_000397.4(CYBB):c.692A>C (p.Gln231Pro) rs151344498
NM_000397.4(CYBB):c.728T>C (p.Val243Ala)
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.1167dup (p.Glu390fs) rs782178147
NM_001099857.5(IKBKG):c.239T>C (p.Leu80Pro) rs2071059718
NM_001099857.5(IKBKG):c.399+6C>T rs1557236080
NM_001099857.5(IKBKG):c.41_56dup (p.Pro20fs) rs2148368738
NM_001099857.5(IKBKG):c.517C>G (p.Arg173Gly) rs179363866
NM_001099857.5(IKBKG):c.760C>G (p.Arg254Gly) rs2148383298
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
Single allele

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