ClinVar Miner

List of variants reported as uncertain significance for Timothy syndrome by Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

Included ClinVar conditions (2):
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Total variants: 11
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HGVS dbSNP
NM_000719.7(CACNA1C):c.1412C>A (p.Thr471Asn)
NM_000719.7(CACNA1C):c.1917C>A (p.Asn639Lys)
NM_000719.7(CACNA1C):c.1917C>G (p.Asn639Lys) rs1057524804
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790
NM_000719.7(CACNA1C):c.2269G>C (p.Ala757Pro)
NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg) rs545511851
NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr) rs370432385
NM_000719.7(CACNA1C):c.5023G>A (p.Ala1675Thr) rs773930851
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446
NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn) rs199473392
NM_000719.7(CACNA1C):c.71G>A (p.Arg24His) rs200941579

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