ClinVar Miner

List of variants studied for C1Q deficiency by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_172369.5(C1QC):c.490G>A (p.Gly164Ser)	rs752596663	0.00004
NM_015991.4(C1QA):c.470G>A (p.Gly157Asp)	rs1570073403

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