ClinVar Miner

List of variants studied for C1Q deficiency by Genome Diagnostics Laboratory,University Medical Center Utrecht

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_000491.5(C1QB):c.549C>T (p.Asn183=) rs149612866
NM_015991.4(C1QA):c.67G>A (p.Glu23Lys) rs17887074

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