ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP
NM_000719.7(CACNA1C):c.*1109dup rs11429670
NM_000719.7(CACNA1C):c.*284C>T rs11062319
NM_000719.7(CACNA1C):c.*3903del rs11353034
NM_000719.7(CACNA1C):c.*4090G>A rs7316246
NM_000719.7(CACNA1C):c.*4273A>G rs7302540
NM_000719.7(CACNA1C):c.*4299C>A rs12809807
NM_000719.7(CACNA1C):c.*4611T>G rs10466907
NM_000719.7(CACNA1C):c.*4831T>A rs4765975
NM_000719.7(CACNA1C):c.*5267C>A rs7957163
NM_000719.7(CACNA1C):c.*5421del rs10713809
NM_000719.7(CACNA1C):c.*5970A>C rs4765976
NM_000719.7(CACNA1C):c.*659_*660insGAAGGGGCCGCCGG rs71057834
NM_000719.7(CACNA1C):c.2436C>T (p.Asp812=) rs215976
NM_000719.7(CACNA1C):c.3786C>T (p.Phe1262=) rs216008
NM_000719.7(CACNA1C):c.4485T>C (p.Asp1495=) rs41276710
NM_000719.7(CACNA1C):c.522G>A (p.Ala174=) rs1544514
NM_000719.7(CACNA1C):c.5361G>A (p.Thr1787=) rs1051375

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