ClinVar Miner

List of variants reported as uncertain significance for Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001167623.2(CACNA1C):c.3883A>G (p.Ile1295Val) rs114851656 0.00161
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421 0.00066
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706 0.00048
NM_000719.7(CACNA1C):c.2854-4G>A rs113929946 0.00007
NM_000719.7(CACNA1C):c.5150C>T (p.Ala1717Val) rs201492706

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