ClinVar Miner

List of variants studied for immune system disorder by Center for Personalized Medicine, Children's Hospital Los Angeles

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr) rs189186475 0.00227
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_001807.6(CEL):c.1966G>C (p.Ala656Pro) rs587780309 0.00172
NM_001038.6(SCNN1A):c.1427G>A (p.Arg476Gln) rs72657556 0.00118
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329 0.00089
NM_000379.4(XDH):c.3647C>A (p.Pro1216His) rs143981573 0.00078
NM_000246.4(CIITA):c.3344G>A (p.Ser1115Asn) rs138790505 0.00029
NM_001199397.3(NEK1):c.859C>G (p.Pro287Ala) rs35222922 0.00012
NM_001849.4(COL6A2):c.2008A>G (p.Thr670Ala) rs753298014 0.00008
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_001012339.3(DNAJC21):c.544C>T (p.Arg182Ter) rs771063992 0.00003
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) rs563345694 0.00003
NM_000215.4(JAK3):c.2452G>A (p.Glu818Lys) rs374191135 0.00001
NM_000536.4(RAG2):c.1321C>A (p.Pro441Thr) rs1336343565 0.00001
NM_001031689.3(PLAA):c.1487-1G>A rs1426488816 0.00001
NM_001110556.2(FLNA):c.7463C>A (p.Thr2488Asn) rs909387820 0.00001
NM_001111.5(ADAR):c.1646C>A (p.Ala549Asp) rs1557882064 0.00001
NM_000379.4(XDH):c.1172C>T (p.Pro391Leu) rs1558697792
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_002872.5(RAC2):c.184G>A (p.Glu62Lys) rs1555908409
NM_003466.4(PAX8):c.1011del (p.Val339fs) rs1558700308
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_007315.4(STAT1):c.1154C>T (p.Thr385Met) rs587777630

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