ClinVar Miner

List of variants reported as benign for immune system disorder by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001364905.1(LRBA):c.8077G>A (p.Ala2693Thr) rs3749574 0.21105
NM_001145805.2(IRGM):c.313C>T (p.Leu105=) rs10065172 0.20755
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642 0.09351
NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys) rs5030737 0.04964
NM_005045.4(RELN):c.5923G>A (p.Gly1975Ser) rs114807343 0.00300
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_001167.4(XIAP):c.146G>A (p.Arg49Gln) rs770122195 0.00008

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