List of variants reported as uncertain significance for C1Q deficiency

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001378156.1(C1QB):c.217G>A (p.Gly73Arg)	rs35477594	0.00054
NM_015991.4(C1QA):c.11C>G (p.Pro4Arg)	rs149230484	0.00023
NM_015991.4(C1QA):c.162G>A (p.Pro54=)	rs375714569	0.00013
NM_172369.5(C1QC):c.538G>A (p.Val180Met)	rs200292688	0.00006
NM_172369.5(C1QC):c.8T>C (p.Val3Ala)	rs367838299	0.00006
NM_172369.5(C1QC):c.706G>A (p.Val236Ile)	rs774542072	0.00002
NM_001378156.1(C1QB):c.371C>A (p.Ala124Asp)
NM_015991.4(C1QA):c.470G>A (p.Gly157Asp)	rs1570073403
NM_172369.5(C1QC):c.19_20delinsAA (p.Ser7Asn)	rs1557603993
NM_172369.5(C1QC):c.19delinsAA (p.Ser7fs)
NM_172369.5(C1QC):c.644AGG[1] (p.Glu216del)

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