List of variants in gene CASQ2 reported as pathogenic by OMIM

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001232.4(CASQ2):c.339_354del (p.Ser113fs)	rs786205106
NM_001232.4(CASQ2):c.500T>A (p.Leu167His)	rs121434550
NM_001232.4(CASQ2):c.919G>C (p.Asp307His)	rs121434549

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