List of variants in gene CASQ2 reported as likely pathogenic for heart conduction disease

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: 32

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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.923C>T (p.Pro308Leu)	rs139228801	0.00003
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys)	rs1436844070	0.00002
NM_001232.4(CASQ2):c.234+2T>C	rs757789935	0.00002
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter)	rs758748280	0.00001
NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter)	rs776874142	0.00001
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.98G>A (p.Arg33Gln)	rs749547712	0.00001
NC_000001.11:g.115732927_115732929delinsGT	rs397516643
NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter)	rs756636650
NM_001232.4(CASQ2):c.1175_1187del (p.Asp392fs)
NM_001232.4(CASQ2):c.213del (p.Gln71fs)	rs786205799
NM_001232.4(CASQ2):c.235-2A>G	rs1060502164
NM_001232.4(CASQ2):c.268_269insTA (p.Gly90fs)
NM_001232.4(CASQ2):c.2T>C (p.Met1Thr)	rs1553197939
NM_001232.4(CASQ2):c.319+1G>A	rs1459829853
NM_001232.4(CASQ2):c.319+1G>C	rs1459829853
NM_001232.4(CASQ2):c.319+2T>G
NM_001232.4(CASQ2):c.381C>T (p.Gly127=)	rs775663612
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.607-1G>A
NM_001232.4(CASQ2):c.736A>T (p.Arg246Ter)
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.939+5G>C	rs746128346
NM_001232.4(CASQ2):c.940-1G>T	rs876657635
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter)	rs397507556

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