List of variants in gene CASQ2 reported as pathogenic for not provided

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu)	rs139228801	0.00003
NM_001232.4(CASQ2):c.234+2T>C	rs757789935	0.00002
NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter)	rs776874142	0.00001
NM_001232.4(CASQ2):c.939+1G>T	rs905985075	0.00001
NM_001232.4(CASQ2):c.204del (p.Lys68fs)	rs786205795
NM_001232.4(CASQ2):c.213del (p.Gln71fs)	rs786205799
NM_001232.4(CASQ2):c.339_354del (p.Ser113fs)	rs786205106
NM_001232.4(CASQ2):c.606+1G>C	rs786205791
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter)	rs397507556

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