List of variants reported as likely pathogenic for C1Q deficiency 2

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001378156.1(C1QB):c.523C>T (p.Arg175Ter)	rs751172449	0.00001
NM_001378156.1(C1QB):c.129dup (p.Thr44fs)	rs945618655
NM_001378156.1(C1QB):c.181+1G>A
NM_001378156.1(C1QB):c.262G>A (p.Gly88Ser)

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