ClinVar Miner

List of variants in gene CASQ1 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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_001231.5(CASQ1):c.1039G>T (p.Gly347Ter)	rs150143470	0.00001
NM_001231.5(CASQ1):c.790del (p.Thr263_Leu264insTer)	rs773153762

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