ClinVar Miner

List of variants studied for COPD, severe early onset by HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001136.5(AGER):c.964+208A>G rs3134940 0.14137
NM_001136.5(AGER):c.822+49G>T rs184003 0.12403
NM_138554.5(TLR4):c.896A>G (p.Asp299Gly) rs4986790 0.06665
NM_138554.5(TLR4):c.1196C>T (p.Thr399Ile) rs4986791 0.04749
NM_001136.5(AGER):c.992-6G>A rs2071288 0.03937
NM_001136.5(AGER):c.244G>A (p.Gly82Ser) rs2070600 0.03890

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