ClinVar Miner

List of variants in gene C1QB studied for C1Q deficiency

Included ClinVar conditions (1):
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Gene type:
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Total variants: 5
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HGVS dbSNP
NM_000491.4(C1QB):c.187+1G>T rs1361922961
NM_000491.4(C1QB):c.549C>T (p.Asn183=) rs149612866
NM_000491.4(C1QB):c.730G>A (p.Gly244Arg) rs34813378
NM_000491.5(C1QB):c.223G>A (p.Gly75Arg)
c.455G-A

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