ClinVar Miner

List of variants reported as uncertain significance for immune system disorder by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.1459G>C (p.Val487Leu) rs104895100 0.00207
NM_000565.4(IL6R):c.923C>T (p.Pro308Leu) rs148682883 0.00084
NM_001364905.1(LRBA):c.1771T>C (p.Tyr591His) rs138890467 0.00038
NM_172351.3(CD46):c.198A>T (p.Lys66Asn) rs150429980 0.00033
NM_032638.5(GATA2):c.30G>T (p.Trp10Cys) rs367785289 0.00011
NM_001364905.1(LRBA):c.6827G>A (p.Arg2276His) rs200802435 0.00010
NM_006767.4(LZTR1):c.1303C>T (p.Arg435Trp) rs369722558 0.00008
NM_001006658.3(CR2):c.658C>T (p.Arg220Ter) rs141472681 0.00006
NM_001290043.2(TAP2):c.1417G>A (p.Val473Ile) rs765178638 0.00005
NM_001754.5(RUNX1):c.749G>A (p.Arg250His) rs771614642 0.00005
NM_000064.4(C3):c.3023C>T (p.Ser1008Leu) rs746172422 0.00004
NM_002296.4(LBR):c.1747C>T (p.Arg583Ter) rs1057516045 0.00002
NM_172351.3(CD46):c.72G>A (p.Met24Ile) rs765047596 0.00002
NM_001710.6(CFB):c.503C>T (p.Pro168Leu) rs779024832 0.00001
NM_003764.4(STX11):c.227T>C (p.Met76Thr) rs1317570206 0.00001
NM_005633.4(SOS1):c.2158A>G (p.Thr720Ala) rs367634525 0.00001
NM_018124.4(RFWD3):c.1367G>C (p.Cys456Ser) rs773701779 0.00001
NM_000064.4(C3):c.1402G>A (p.Gly468Arg) rs148820222
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu) rs1281729528
NM_000116.5(TAFAZZIN):c.705C>G (p.Ile235Met)
NM_000135.4(FANCA):c.2119A>G (p.Asn707Asp)
NM_000135.4(FANCA):c.4196C>T (p.Ala1399Val) rs1457671800
NM_001018113.3(FANCB):c.271C>T (p.Leu91Phe)
NM_001142569.3(INAVA):c.743A>T (p.Tyr248Phe) rs41313912
NM_001167.4(XIAP):c.581T>A (p.Ile194Asn) rs2148089918
NM_001348946.2(ABCB1):c.3547C>T (p.Arg1183Cys) rs199676098
NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys) rs2066845
NM_001430.5(EPAS1):c.587C>T (p.Thr196Met)
NM_001754.5(RUNX1):c.331A>C (p.Thr111Pro) rs1555899722
NM_001754.5(RUNX1):c.485G>A (p.Arg162Lys) rs1057519750
NM_001754.5(RUNX1):c.503G>T (p.Gly168Val) rs2057884016
NM_001972.4(ELANE):c.322G>C (p.Gly108Arg) rs1221333968
NM_001972.4(ELANE):c.367C>G (p.Leu123Val) rs2035663521
NM_005188.4(CBL):c.2050C>T (p.Pro684Ser) rs587778154
NM_005223.4(DNASE1):c.385G>A (p.Asp129Asn)
NM_018124.4(RFWD3):c.1189G>C (p.Val397Leu) rs1567572985
NM_022552.5(DNMT3A):c.2666T>G (p.Leu889Arg)
NM_032638.5(GATA2):c.706A>G (p.Met236Val) rs746737860
NM_139276.3(STAT3):c.1004G>A (p.Arg335Gln)
NM_144687.4(NLRP12):c.617G>A (p.Arg206His) rs139461508

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