List of variants in gene CASQ2 reported as likely pathogenic for Catecholaminergic polymorphic ventricular tachycardia 1

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001232.4(CASQ2):c.1097T>C (p.Leu366Pro)	rs762153545	0.00003
NM_001232.4(CASQ2):c.234+2T>C	rs757789935	0.00002
NM_001232.4(CASQ2):c.839-2A>G	rs1338756025	0.00001
NM_001232.4(CASQ2):c.939+1G>T	rs905985075	0.00001
NM_001232.4(CASQ2):c.235-2A>G	rs1060502164
NM_001232.4(CASQ2):c.319+1G>C	rs1459829853
NM_001232.4(CASQ2):c.319+2T>G
NM_001232.4(CASQ2):c.420+1G>A
NM_001232.4(CASQ2):c.546del (p.Phe182fs)	rs763955301
NM_001232.4(CASQ2):c.606+1G>C	rs786205791
NM_001232.4(CASQ2):c.607-11_607-2del
NM_001232.4(CASQ2):c.784-1G>A
NM_001232.4(CASQ2):c.923C>A (p.Pro308Gln)	rs139228801
NM_001232.4(CASQ2):c.939+1G>A
NM_001232.4(CASQ2):c.940-1G>T	rs876657635

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