List of variants reported as benign for Timothy syndrome

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Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_000719.7(CACNA1C):c.5445-511=	rs10774054	0.99951
NM_000719.7(CACNA1C):c.2853+265G>C	rs215983	0.94615
NM_000719.7(CACNA1C):c.1670-52C>T	rs2370602	0.82155
NM_000719.7(CACNA1C):c.5445-584A>G	rs10774053	0.80326
NM_000719.7(CACNA1C):c.5681-77C>T	rs2270373	0.79539
NM_000719.7(CACNA1C):c.4727-231T>C	rs7136355	0.76028
NM_000719.7(CACNA1C):c.5445-586C>T	rs10848683	0.70684
NM_000719.7(CACNA1C):c.3945+83T>C	rs2239127	0.70394
NM_000719.7(CACNA1C):c.3945+96T>C	rs2239128	0.70345
NM_000719.7(CACNA1C):c.3945+109C>T	rs2239129	0.68534
NM_000719.7(CACNA1C):c.3946-98G>A	rs216045	0.66649
NM_000719.7(CACNA1C):c.4399-79C>A	rs2302728	0.61634
NM_000719.7(CACNA1C):c.1896-54G>A	rs11832738	0.60150
NM_000719.7(CACNA1C):c.5361G>A (p.Thr1787=)	rs1051375	0.57002
NM_000719.7(CACNA1C):c.4074+36G>A	rs1990322	0.56695
NM_000719.7(CACNA1C):c.1114-487A>G	rs1008832	0.50604
NM_000719.7(CACNA1C):c.1391-64del	rs34277236	0.29223
NM_000719.7(CACNA1C):c.617+19T>C	rs1544516	0.27158
NM_000719.7(CACNA1C):c.617+17G>A	rs1544515	0.27035
NM_000719.7(CACNA1C):c.2793+187A>G	rs215981	0.26946
NM_000719.7(CACNA1C):c.3718-81T>C	rs216007	0.20791
NM_000719.7(CACNA1C):c.3786C>T (p.Phe1262=)	rs216008	0.20673
NM_000719.7(CACNA1C):c.522G>A (p.Ala174=)	rs1544514	0.16949
NM_000719.7(CACNA1C):c.3157-90A>G	rs758560	0.07002
NM_000719.7(CACNA1C):c.3717+69C>T	rs55641425	0.06936
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg)	rs34534613	0.00346
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys)	rs185788586	0.00182
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg)	rs121912775	0.00036
NM_000719.7(CACNA1C):c.*5421del	rs10713809
NM_000719.7(CACNA1C):c.652_659GCC[2]GGGAAGGGGCCGCCGG[1]	rs71057834
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del)	rs575583988
NM_000719.7(CACNA1C):c.4074+33del	rs34428885

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