ClinVar Miner

List of variants reported as pathogenic for Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

Included ClinVar conditions (1):
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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_005535.3(IL12RB1):c.94C>T (p.Gln32Ter) rs121434492 0.00011
NM_005535.3(IL12RB1):c.1791+2T>G rs554063682 0.00006
NM_005535.3(IL12RB1):c.517C>T (p.Arg173Trp) rs144702323 0.00003
NM_005535.3(IL12RB1):c.637C>T (p.Arg213Trp) rs121434494 0.00003
NM_005535.3(IL12RB1):c.1398G>A (p.Trp466Ter) rs754993079 0.00002
NM_005535.3(IL12RB1):c.1456C>T (p.Arg486Ter) rs576374797 0.00002
NM_005535.3(IL12RB1):c.493C>T (p.Gln165Ter) rs1470879267 0.00001
NM_005535.3(IL12RB1):c.847C>T (p.Arg283Ter) rs373643598 0.00001
NM_005535.3(IL12RB1):c.913A>T (p.Lys305Ter) rs1555782866 0.00001
IL12RB1, 409-549DEL
NC_000019.10:g.(?_18073497)_(18073619_?)del
NC_000019.9:g.(?_18171912)_(18177527_?)del
NC_000019.9:g.(?_18177332)_(18177527_?)del
NM_005535.2(IL12RB1):c.700+362_1619-944del
NM_005535.3(IL12RB1):c.1021+1G>C rs587776680
NM_005535.3(IL12RB1):c.1061CCA[1] (p.Thr355del) rs2146215644
NM_005535.3(IL12RB1):c.1126C>T (p.Gln376Ter) rs121434493
NM_005535.3(IL12RB1):c.1238_1239del (p.Cys413fs) rs2146200643
NM_005535.3(IL12RB1):c.1266_1279del (p.Pro424fs) rs1428057753
NM_005535.3(IL12RB1):c.1327+1del
NM_005535.3(IL12RB1):c.1386_1387del (p.Ser463fs)
NM_005535.3(IL12RB1):c.1495C>T (p.Gln499Ter) rs781736642
NM_005535.3(IL12RB1):c.1561C>T (p.Arg521Ter) rs991981668
NM_005535.3(IL12RB1):c.1598_1604delinsCCG (p.Gln533fs) rs2034359637
NM_005535.3(IL12RB1):c.1623_1624delinsTT (p.Gln542Ter) rs2034195416
NM_005535.3(IL12RB1):c.1690dup (p.Val564fs)
NM_005535.3(IL12RB1):c.169del (p.Ser57fs) rs1599555124
NM_005535.3(IL12RB1):c.1765del (p.Ala589fs) rs1476855887
NM_005535.3(IL12RB1):c.1791+1G>C
NM_005535.3(IL12RB1):c.1897G>T (p.Glu633Ter)
NM_005535.3(IL12RB1):c.251_254del (p.Gly84fs) rs1568515222
NM_005535.3(IL12RB1):c.264C>G (p.Tyr88Ter) rs1202592147
NM_005535.3(IL12RB1):c.304C>T (p.Gln102Ter)
NM_005535.3(IL12RB1):c.369dup (p.Glu124fs) rs2146389344
NM_005535.3(IL12RB1):c.395_398dup (p.Tyr134fs)
NM_005535.3(IL12RB1):c.509T>A (p.Val170Glu)
NM_005535.3(IL12RB1):c.559G>T (p.Gly187Ter) rs564884307
NM_005535.3(IL12RB1):c.592T>C (p.Cys198Arg) rs121434495
NM_005535.3(IL12RB1):c.599del (p.Leu200fs) rs1169002203
NM_005535.3(IL12RB1):c.635G>A (p.Arg212Gln) rs748173451
NM_005535.3(IL12RB1):c.64+1G>T
NM_005535.3(IL12RB1):c.64+2T>G
NM_005535.3(IL12RB1):c.699del (p.Glu234fs) rs2146310027
NM_005535.3(IL12RB1):c.790C>T (p.Gln264Ter) rs2146259279
NM_005535.3(IL12RB1):c.942C>A (p.Tyr314Ter) rs762747908
NM_005535.3(IL12RB1):c.946del (p.Val316fs)
NM_005535.3(IL12RB1):c.962C>A (p.Ser321Ter) rs147766868

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