ClinVar Miner

List of variants studied for immune system disorder by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_014639.4(SKIC3):c.2275C>T (p.Leu759Phe) rs145496449 0.00143
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) rs145360423 0.00054
NM_031229.4(RBCK1):c.998C>T (p.Ser333Leu) rs143194967 0.00031
NM_003721.4(RFXANK):c.188-11C>T rs201545133 0.00029
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys) rs200534908 0.00014
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000265.7(NCF1):c.124C>T (p.Arg42Trp) rs782800778 0.00007
NM_004523.4(KIF11):c.980G>A (p.Arg327His) rs746977730 0.00006
NM_012452.3(TNFRSF13B):c.579C>A (p.Cys193Ter) rs72553885 0.00004
NM_172369.5(C1QC):c.490G>A (p.Gly164Ser) rs752596663 0.00004
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874 0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933 0.00002
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533 0.00001
NM_000178.4(GSS):c.656A>G (p.Asp219Gly) rs28938472 0.00001
NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp) rs752858869 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_003764.4(STX11):c.173T>C (p.Leu58Pro) rs431905512 0.00001
NM_006929.5(SKIC2):c.1297C>T (p.Arg433Cys) rs750250320 0.00001
NM_006949.4(STXBP2):c.1430C>T (p.Pro477Leu) rs121918540 0.00001
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs) rs768019897 0.00001
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000059.4(BRCA2):c.4787del (p.Asn1596fs) rs1593903422
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000065.5(C6):c.2049C>G (p.Tyr683Ter) rs867425110
NM_000081.4(LYST):c.3170del (p.Lys1057fs)
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter) rs2068606445
NM_000222.3(KIT):c.2872A>G (p.Asn958Asp) rs1560426461
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000271.5(NPC1):c.2130+1G>A rs2058753286
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs) rs886041124
NM_000383.4(AIRE):c.44G>A (p.Arg15His) rs179363876
NM_001128148.3(TFRC):c.58T>C (p.Tyr20His) rs863225436
NM_001164277.2(SLC37A4):c.963_964del (p.Val322fs) rs1592109970
NM_001164277.2(SLC37A4):c.985+1G>A rs1943553565
NM_001243133.2(NLRP3):c.779G>C (p.Arg260Pro) rs180177442
NM_001354930.2(RIPK1):c.954del (p.Met318fs) rs1561772403
NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter) rs1578999313
NM_001364905.1(LRBA):c.7850-1G>A rs1729842757
NM_001625.4(AK2):c.545C>A (p.Ala182Asp) rs559947967
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002880.4(RAF1):c.659_660del (p.Ser220fs) rs1575577384
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003721.4(RFXANK):c.271+1G>C rs759667201
NM_003721.4(RFXANK):c.271+1delinsTCAC rs2060611603
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) rs104894709
NM_003721.4(RFXANK):c.477C>A (p.Ser159Arg) rs368281475
NM_003721.4(RFXANK):c.713-1G>A rs2060720733
NM_003978.5(PSTPIP1):c.355-4G>A rs1596111331
NM_004523.4(KIF11):c.895A>G (p.Ile299Val) rs1844517913
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly) rs759314410
NM_005045.4(RELN):c.9841del (p.Ala3281fs) rs1586472959
NM_005633.4(SOS1):c.2316G>C (p.Glu772Asp) rs1176763588
NM_006118.4(HAX1):c.463dup (p.Gln155fs) rs1572018886
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006767.4(LZTR1):c.1585T>C (p.Tyr529His) rs767374538
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006929.5(SKIC2):c.3561_3581del (p.Ser1189_Leu1195del) rs1582192007
NM_014639.4(SKIC3):c.4175_4176dup (p.Val1393fs) rs1582849711
NM_015474.4(SAMHD1):c.571A>G (p.Ile191Val) rs1303667371
NM_015474.4(SAMHD1):c.625+1G>A rs1601141002
NM_015991.4(C1QA):c.470G>A (p.Gly157Asp) rs1570073403
NM_020964.3(EPG5):c.1640C>T (p.Ser547Phe) rs1599633287
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_024598.4(USB1):c.370T>C (p.Ser124Pro) rs1597049287
NM_031229.4(RBCK1):c.461-2A>G rs2016220601
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_203447.4(DOCK8):c.882dup (p.Glu295fs) rs1554668061

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