ClinVar Miner

List of variants reported as uncertain significance for immune system disorder by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001364905.1(LRBA):c.2480G>A (p.Arg827Gln) rs201878879 0.00002
NM_001364905.1(LRBA):c.5324C>G (p.Ala1775Gly) rs552415217 0.00002
NM_000631.5(NCF4):c.908T>G (p.Val303Gly) rs762012398 0.00001
NM_000448.3(RAG1):c.2917C>A (p.Arg973Ser) rs1389614116
NM_001291303.3(FAT4):c.12479+3A>G rs2126083898
NM_001364905.1(LRBA):c.6056A>G (p.Glu2019Gly)
NM_001783.4(CD79A):c.374T>G (p.Val125Gly) rs2123304410
NM_005085.4(NUP214):c.199CTT[1] (p.Leu68del) rs1302128286
NM_005475.3(SH2B3):c.89G>A (p.Cys30Tyr)
NM_006846.4(SPINK5):c.1010+7A>G rs2113105960
NM_006949.4(STXBP2):c.58C>T (p.Arg20Trp)
NM_015474.4(SAMHD1):c.1634T>G (p.Phe545Cys) rs1401777461
NM_016123.4(IRAK4):c.169G>A (p.Glu57Lys)
NM_020435.4(GJC2):c.148G>A (p.Glu50Lys) rs1255327063
NM_032193.4(RNASEH2C):c.398G>A (p.Gly133Asp) rs2135652409
NM_033629.6(TREX1):c.554G>C (p.Arg185Pro)
NM_138387.4(G6PC3):c.183C>A (p.Ser61Arg) rs2144135649
NM_138387.4(G6PC3):c.482G>C (p.Arg161Pro) rs1485073209

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