ClinVar Miner

List of variants studied for immune system disorder by Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NC_000011.10:g.108151767_108183227del
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs) rs386834098

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