ClinVar Miner

List of variants reported as likely benign for immune system disorder by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_153460.4(IL17RC):c.1522+1G>C rs148575246 0.00763
NM_001039569.2(AP1S3):c.64A>G (p.Thr22Ala) rs149183052 0.00120
NM_001364905.1(LRBA):c.2209G>A (p.Val737Ile) rs151213445 0.00078
NM_001370466.1(NOD2):c.293C>T (p.Pro98Leu) rs149390911 0.00076
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784 0.00049
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563 0.00028
NM_003183.6(ADAM17):c.231-14G>A rs370060861 0.00024
NM_006785.4(MALT1):c.1282G>A (p.Val428Ile) rs140664950 0.00011
NM_000271.5(NPC1):c.180+8C>T rs778096289 0.00010
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met) rs547184348 0.00003
NM_000081.4(LYST):c.2724C>T (p.Cys908=) rs201440611 0.00001
NM_001364905.1(LRBA):c.3805C>G (p.Pro1269Ala) rs555169864

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