ClinVar Miner

List of variants studied for 3MC syndrome 1 by Autoinflammatory diseases unit, CHU de Montpellier

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_139125.4(MASP1):c.913C>T (p.Gln305Ter) rs1714622835

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