ClinVar Miner

List of variants studied for immune system disorder by Pathology and Clinical Laboratory Medicine, King Fahad Medical City

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr) rs120074126 0.00001
NM_000022.4(ADA):c.302G>A (p.Arg101Gln) rs121908714
NM_000271.5(NPC1):c.2130+1G>A rs2058753286
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr) rs111256741
NM_003721.4(RFXANK):c.271+1G>C rs759667201
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) rs104894709
NM_003721.4(RFXANK):c.558T>A (p.Tyr186Ter) rs1599784374
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070

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