ClinVar Miner

List of variants studied for hematologic disorder by Immunogenetics of Pediatric Autoimmune Diseases, Institut Imagine

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003745.2(SOCS1):c.24del (p.Ala9fs) rs2069587477
NM_003745.2(SOCS1):c.368C>G (p.Pro123Arg) rs1244284678
NM_003745.2(SOCS1):c.476_480dup (p.Met161fs) rs1470306246
NM_015175.3(NBEAL2):c.7460_7461del (p.Thr2487fs)

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