ClinVar Miner

List of variants reported as uncertain significance for immune system disorder by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000043.6(FAS):c.183G>A (p.Lys61=) rs3218613 0.00606
NM_000543.5(SMPD1):c.340G>A (p.Val114Met) rs142215226 0.00061
NM_001142864.4(PIEZO1):c.3000C>A (p.Phe1000Leu) rs568280615 0.00021
NM_022168.4(IFIH1):c.1793G>A (p.Arg598His) rs200945986 0.00011
NM_000135.4(FANCA):c.3536C>G (p.Pro1179Arg) rs141422170 0.00005
NM_020964.3(EPG5):c.2373C>T (p.Asp791=) rs552419530 0.00005
NM_001142864.4(PIEZO1):c.3107G>A (p.Arg1036His) rs769506340 0.00003
NM_001382567.1(STIM1):c.1634+2159A>T rs772759124 0.00003
NM_000536.4(RAG2):c.218G>A (p.Arg73His) rs762407838 0.00002
NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu) rs757316102 0.00002
NM_015338.6(ASXL1):c.1910C>G (p.Ala637Gly) rs769053835 0.00002
NM_006904.7(PRKDC):c.6952G>A (p.Ala2318Thr) rs779732085 0.00001
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767 0.00001
NM_199242.3(UNC13D):c.3079G>A (p.Gly1027Arg) rs776703437 0.00001
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000215.4(JAK3):c.3103del (p.Leu1035fs) rs1424732031
NM_000215.4(JAK3):c.3257C>T (p.Pro1086Leu) rs777493612
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys) rs371837210
NM_001142864.4(PIEZO1):c.7553G>C (p.Arg2518Pro) rs774268616
NM_001291303.3(FAT4):c.13399G>A (p.Val4467Met) rs1215405311
NM_001291303.3(FAT4):c.913A>T (p.Ile305Phe) rs1553958385
NM_001770.6(CD19):c.1042T>C (p.Tyr348His) rs1596717340
NM_001783.4(CD79A):c.419C>T (p.Thr140Ile) rs148797987
NM_002872.5(RAC2):c.108-8C>G rs1601672720
NM_004629.2(FANCG):c.84+53G>T rs1563987651
NM_006397.3(RNASEH2A):c.290C>T (p.Ser97Phe) rs1457758264
NM_006397.3(RNASEH2A):c.746C>A (p.Ala249Glu) rs758719669
NM_006846.4(SPINK5):c.1712_1714del (p.Arg571del) rs1554105558
NM_006949.4(STXBP2):c.1198_1199insGGCCCG (p.Pro399_Ala400insGlyPro) rs1568469885
NM_018389.5(SLC35C1):c.1001C>A (p.Ser334Tyr) rs1554953926
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs) rs774076578
NM_022168.4(IFIH1):c.2459G>C (p.Arg820Pro) rs74162087
NM_152564.5(VPS13B):c.9463C>T (p.Leu3155Phe) rs1588761583

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