ClinVar Miner

List of variants in gene MICU1 reported as pathogenic by Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001195518.2(MICU1):c.1042C>T (p.Gln348Ter)	rs1135401814
NM_001195518.2(MICU1):c.40del (p.Ala14fs)	rs749124658

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