List of variants in gene CACNA1C reported as pathogenic for Timothy syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His)	rs1057517711	0.00001
NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser)	rs80315385
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg)	rs79891110
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys)	rs786205748
NM_000719.7(CACNA1C):c.1853T>G (p.Val618Gly)	rs2154593437
NM_000719.7(CACNA1C):c.1928C>T (p.Ser643Phe)
NM_000719.7(CACNA1C):c.3343G>A (p.Glu1115Lys)	rs199473391
NM_000719.7(CACNA1C):c.3497T>C (p.Ile1166Thr)	rs797044881
NM_000719.7(CACNA1C):c.3500T>C (p.Val1167Ala)	rs2153440081
NM_000719.7(CACNA1C):c.4087G>T (p.Val1363Leu)	rs1555968941
NM_000719.7(CACNA1C):c.5884C>T (p.Arg1962Ter)
NM_000719.7(CACNA1C):c.595G>A (p.Asp199Asn)	rs2154562881
NM_001167623.2(CACNA1C):c.1216G>C (p.Gly406Arg)	rs786205745

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