ClinVar Miner

List of variants reported as likely pathogenic for vasculitis due to ADA2 deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001282225.2(ADA2):c.25C>T (p.Arg9Trp) rs753994372 0.00002
NM_001282225.2(ADA2):c.323-2A>G rs2062365477 0.00001
NM_001282225.2(ADA2):c.562C>G (p.Leu188Val) rs765219776 0.00001
NM_001282225.2(ADA2):c.1081+1G>T rs1300843648
NM_001282225.2(ADA2):c.1082-2A>G rs778965407
NM_001282225.2(ADA2):c.1358_1359delinsGC (p.Tyr453Cys)
NM_001282225.2(ADA2):c.1471_1472dup (p.Asn491fs) rs2517274830
NM_001282225.2(ADA2):c.322+1G>A
NM_001282225.2(ADA2):c.322+2T>A rs2517360088
NM_001282225.2(ADA2):c.334C>T (p.His112Tyr) rs773226219
NM_001282225.2(ADA2):c.369G>T (p.Trp123Cys) rs772909795
NM_001282225.2(ADA2):c.754-2A>G rs2062118599

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