ClinVar Miner

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

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_005535.3(IL12RB1):c.1094T>C (p.Met365Thr) rs375947 0.29555
NM_005535.3(IL12RB1):c.1132G>C (p.Gly378Arg) rs401502 0.28523
NM_005535.3(IL12RB1):c.*34C>T rs3746190 0.28316
NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg) rs11575934 0.25155
NM_005535.3(IL12RB1):c.-111A>T rs393548 0.21469
NM_005535.3(IL12RB1):c.-2C>T rs436857 0.17226
NM_005535.3(IL12RB1):c.467G>A (p.Arg156His) rs11575926 0.12190
NM_005535.3(IL12RB1):c.387G>C (p.Val129=) rs11086087 0.09792
NM_005535.3(IL12RB1):c.139C>T (p.Pro47Ser) rs17887176 0.01431
NM_005535.3(IL12RB1):c.102G>A (p.Pro34=) rs146978336 0.00638
NM_005535.3(IL12RB1):c.1242C>T (p.Tyr414=) rs376271 0.00605
NM_005535.3(IL12RB1):c.848G>A (p.Arg283Gln) rs117511121 0.00605
NM_005535.3(IL12RB1):c.1149C>T (p.Cys383=) rs17882216 0.00576
NM_005535.3(IL12RB1):c.783+10C>T rs79972275 0.00537
NM_005535.3(IL12RB1):c.581-18C>T rs78041096 0.00522
NM_005535.3(IL12RB1):c.1573G>A (p.Ala525Thr) rs11575935 0.00494
NM_005535.3(IL12RB1):c.1719C>T (p.Ala573=) rs17885102 0.00316
NM_005535.3(IL12RB1):c.1584G>A (p.Arg528=) rs141968777 0.00313
NM_005535.3(IL12RB1):c.180C>T (p.Tyr60=) rs146102898 0.00243
NM_005535.3(IL12RB1):c.1098G>A (p.Thr366=) rs61734350 0.00234
NM_005535.3(IL12RB1):c.124+14C>T rs113221245 0.00199
NM_005535.3(IL12RB1):c.1914T>C (p.Pro638=) rs199686420 0.00129
NM_005535.3(IL12RB1):c.1056C>T (p.Asn352=) rs61734349 0.00126
NM_005535.3(IL12RB1):c.271G>A (p.Ala91Thr) rs147215816 0.00109
NM_005535.3(IL12RB1):c.273C>T (p.Ala91=) rs138087003 0.00079
NM_005535.3(IL12RB1):c.1327+9C>A rs185883069 0.00049
NM_005535.3(IL12RB1):c.1781G>A (p.Gly594Glu) rs370238890 0.00029
NM_005535.3(IL12RB1):c.824C>T (p.Ala275Val) rs201831465 0.00020
NM_005535.3(IL12RB1):c.581-17G>A rs370354493 0.00019
NM_005535.3(IL12RB1):c.1132G>A (p.Gly378Arg) rs401502
NM_005535.3(IL12RB1):c.129G>A (p.Ser43=) rs527461691
NM_005535.3(IL12RB1):c.1786A>G (p.Lys596Glu) rs567051378
NM_005535.3(IL12RB1):c.239+11del
NM_005535.3(IL12RB1):c.64+10del
NM_005535.3(IL12RB1):c.684C>T (p.Pro228=) rs17852635

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