ClinVar Miner

List of variants reported as pathogenic for immune system disorder by Mendelics

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 156
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000065.5(C6):c.1879del (p.Asp627fs) rs61469168 0.00328
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met) rs35960726 0.00270
NM_000065.5(C6):c.1138del (p.Gln380fs) rs375762365 0.00206
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_012275.3(IL36RN):c.115+6T>C rs148755083 0.00021
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_001099857.5(IKBKG):c.185G>A (p.Arg62Gln) rs782604431 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser) rs147462227 0.00007
NM_018062.4(FANCL):c.296_297del (p.Gln99fs) rs779544327 0.00007
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_172369.5(C1QC):c.100G>A (p.Gly34Arg) rs200206736 0.00005
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951 0.00004
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs) rs730881294 0.00003
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu) rs193302892 0.00003
NM_000051.4(ATM):c.7875T>G (p.Asp2625Glu) rs1196903858 0.00002
NM_000051.4(ATM):c.7876G>C (p.Ala2626Pro) rs267606669 0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_001083116.3(PRF1):c.160C>T (p.Arg54Cys) rs200430442 0.00002
NM_152564.5(VPS13B):c.1079del (p.Asp360fs) rs767518464 0.00002
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000215.4(JAK3):c.1645C>T (p.Arg549Ter) rs1011307501 0.00001
NM_000271.5(NPC1):c.2292G>A (p.Ala764=) rs772565983 0.00001
NM_000271.5(NPC1):c.2972del (p.Gln991fs) rs1567948623 0.00001
NM_000271.5(NPC1):c.3394G>A (p.Ala1132Thr) rs1046046139 0.00001
NM_000448.3(RAG1):c.424C>T (p.Arg142Ter) rs773929270 0.00001
NM_001018115.3(FANCD2):c.3777+1G>T rs1434069831 0.00001
NM_005475.3(SH2B3):c.1A>G (p.Met1Val) rs376261237 0.00001
NM_006767.4(LZTR1):c.1785+1G>A rs145594158 0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp) rs780598553 0.00001
NM_199242.3(UNC13D):c.640C>T (p.Arg214Ter) rs769243366 0.00001
NM_199242.3(UNC13D):c.817C>T (p.Arg273Ter) rs201589664 0.00001
NM_000043.6(FAS):c.178del (p.His60fs) rs1589465172
NM_000043.6(FAS):c.415del (p.Val139fs) rs1589478691
NM_000043.6(FAS):c.651+2_651+3insTGAAAT rs1589485636
NM_000043.6(FAS):c.748C>T (p.Arg250Ter) rs778993919
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1236-1G>T rs1408719214
NM_000051.4(ATM):c.1236-2A>G rs80159221
NM_000051.4(ATM):c.1240C>T (p.Gln414Ter) rs866521873
NM_000051.4(ATM):c.1495C>T (p.Gln499Ter) rs1555071075
NM_000051.4(ATM):c.1745_1749del (p.Phe582fs) rs1565385883
NM_000051.4(ATM):c.3272_3273del (p.Glu1091fs) rs1565429102
NM_000051.4(ATM):c.3435del (p.Asp1145fs) rs1591636349
NM_000051.4(ATM):c.3485T>G (p.Leu1162Ter) rs1591636613
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter) rs1555100005
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.5757_5761del (p.Lys1920fs) rs1591732424
NM_000051.4(ATM):c.6404dup (p.Arg2136fs) rs587782554
NM_000051.4(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.4(ATM):c.7542_7543del (p.Tyr2514_Lys2515delinsTer) rs1555123981
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs) rs879254036
NM_000051.4(ATM):c.8484del (p.Gln2828fs) rs1565563579
NM_000061.3(BTK):c.1763G>A (p.Trp588Ter) rs1603001805
NM_000061.3(BTK):c.1784dup (p.Met596fs) rs1603001771
NM_000061.3(BTK):c.721dup (p.Tyr241fs) rs1603008381
NM_000061.3(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000135.4(FANCA):c.236_239del (p.Asp79fs) rs1336033143
NM_000135.4(FANCA):c.275C>G (p.Ser92Ter) rs1183559927
NM_000136.3(FANCC):c.1257del (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1257dup (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter) rs1035139114
NM_000136.3(FANCC):c.1653dup (p.Lys552Ter) rs2134382250
NM_000136.3(FANCC):c.259C>T (p.Gln87Ter) rs2136049646
NM_000136.3(FANCC):c.338G>A (p.Trp113Ter) rs1064793405
NM_000136.3(FANCC):c.519del (p.Arg173fs) rs1564719070
NM_000206.3(IL2RG):c.421C>T (p.Gln141Ter) rs1556330713
NM_000206.3(IL2RG):c.903_910del (p.Glu302fs) rs1556329779
NM_000206.3(IL2RG):c.905_906del (p.Glu302fs) rs2147746709
NM_000215.4(JAK3):c.2933_2934del (p.Lys978fs) rs1380154594
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000271.5(NPC1):c.2594C>T (p.Ser865Leu) rs1160114136
NM_000271.5(NPC1):c.2660C>T (p.Pro887Leu) rs1169032037
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn) rs1261939149
NM_000271.5(NPC1):c.3662del (p.Phe1221fs) rs786200878
NM_000271.5(NPC1):c.451_452del (p.Ser151fs) rs749012588
NM_000355.4(TCN2):c.249_255dup (p.Gly86fs) rs1602043738
NM_000377.3(WAS):c.1058del (p.Pro353fs) rs1557007165
NM_000377.3(WAS):c.190T>C (p.Trp64Arg) rs2147262851
NM_000377.3(WAS):c.734+5G>A rs1602178267
NM_000377.3(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000383.4(AIRE):c.117del (p.Glu40fs) rs1248788128
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) rs121434256
NM_000397.4(CYBB):c.1326C>A (p.Tyr442Ter) rs1602184316
NM_000448.3(RAG1):c.2332C>T (p.Arg778Trp) rs752020152
NM_000448.3(RAG1):c.360_367del (p.Asp121fs) rs1590701881
NM_000628.5(IL10RB):c.476G>A (p.Trp159Ter) rs1373354533
NM_001012339.3(DNAJC21):c.982del (p.Ala328fs) rs1580531090
NM_001018115.3(FANCD2):c.1279-1G>A rs1294791314
NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter) rs1589136659
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001083116.3(PRF1):c.1016T>G (p.Val339Gly) rs2132475924
NM_001164277.2(SLC37A4):c.1124+3_1124+6del rs782612223
NM_001167.4(XIAP):c.1141C>T (p.Arg381Ter) rs1556408009
NM_001167.4(XIAP):c.1458del (p.Val487fs) rs1602562990
NM_001167.4(XIAP):c.609dup (p.Gly204fs) rs1602544507
NM_001364905.1(LRBA):c.6709del (p.Trp2237fs) rs1581401865
NM_001972.4(ELANE):c.169G>A (p.Ala57Thr) rs2145144144
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_001972.4(ELANE):c.561C>A (p.Cys187Ter) rs797045009
NM_001972.4(ELANE):c.669C>A (p.Cys223Ter) rs1599294750
NM_002351.5(SH2D1A):c.160T>A (p.Tyr54Asn) rs2147531326
NM_002351.5(SH2D1A):c.202-1G>C rs2147534019
NM_002609.4(PDGFRB):c.1997A>G (p.Asn666Ser) rs2113894766
NM_003764.4(STX11):c.448G>T (p.Glu150Ter) rs2128757192
NM_003764.4(STX11):c.554dup (p.Trp186fs) rs1317576992
NM_003764.4(STX11):c.581_584del (p.Leu194fs) rs1584062332
NM_003998.4(NFKB1):c.407+2T>G rs2149168346
NM_004523.4(KIF11):c.2782C>T (p.Gln928Ter) rs1589608594
NM_005373.3(MPL):c.1653+1del rs755257605
NM_006846.4(SPINK5):c.1089T>G (p.Tyr363Ter) rs752777832
NM_006846.4(SPINK5):c.652C>T (p.Arg218Ter) rs199757347
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_007315.4(STAT1):c.514T>C (p.Phe172Leu) rs2125075036
NM_012448.4(STAT5B):c.1718G>A (p.Trp573Ter) rs2144219508
NM_014009.4(FOXP3):c.1234del (p.Glu412fs) rs2147944106
NM_014639.4(SKIC3):c.2353_2361del (p.Asn785_Tyr787del) rs1174587137
NM_014639.4(SKIC3):c.2849_2850del (p.Glu950fs) rs2112308448
NM_020964.3(EPG5):c.1252+1G>T rs763788808
NM_020964.3(EPG5):c.5870-2A>G rs1599474108
NM_020964.3(EPG5):c.6577del (p.Val2193fs) rs1599445663
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_031229.4(RBCK1):c.994_999del (p.Cys332_Ser333del) rs2122282189
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032444.4(SLX4):c.4391_4403del (p.Ser1464fs) rs1596519879
NM_032444.4(SLX4):c.4405del (p.Ser1469fs) rs1596519854
NM_032638.5(GATA2):c.831del (p.Phe278fs) rs1576748378
NM_032977.4(CASP10):c.1504del (p.Gln502fs) rs2126062115
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs) rs1555602141
NM_138576.4(BCL11B):c.2448_2461dup (p.Glu821fs) rs2139753037
NM_139027.6(ADAMTS13):c.2863dup (p.Trp955fs) rs1588198044
NM_152564.5(VPS13B):c.11429_11432dup (p.Arg3812fs) rs1588810695
NM_152564.5(VPS13B):c.2047del (p.Gln683fs) rs386834074
NM_199242.3(UNC13D):c.118-307G>A rs1019391145

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