List of variants in gene CASQ2 reported as uncertain significance for Catecholaminergic polymorphic ventricular tachycardia

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.*503G>A	rs72554068	0.00381
NM_001232.3(CASQ2):c.-225G>A	rs535999427	0.00011
NM_001232.4(CASQ2):c.205C>G (p.Gln69Glu)	rs761862949	0.00001
NC_000001.11:g.(?_115701231)_(115744922_?)dup
NM_001232.3(CASQ2):c.-221_-220GT[10]	rs72554067
NM_001232.3(CASQ2):c.-221_-220GT[11]	rs72554067
NM_001232.3(CASQ2):c.-221_-220GT[12]	rs72554067
NM_001232.3(CASQ2):c.-221_-220GT[5]	rs72554067
NM_001232.4(CASQ2):c.*1017dup	rs11347859
NM_001232.4(CASQ2):c.*1183CTAA[1]	rs886045155
NM_001232.4(CASQ2):c.-206_-205dup	rs72554067
NM_001232.4(CASQ2):c.-212_-211insATGTGT	rs886045162
NM_001232.4(CASQ2):c.-218delinsCGTGCGTGC	rs886045163
NM_001232.4(CASQ2):c.-219_-218insCGTGTG	rs886045164
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del)	rs72554069

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