ClinVar Miner

List of variants reported as uncertain significance for Timothy syndrome; Brugada syndrome 3 by Fulgent Genetics, Fulgent Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val) rs374991642 0.00007
NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala) rs531161884 0.00004
NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser) rs552478740 0.00004
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser) rs761966966 0.00003
NM_000719.7(CACNA1C):c.5456G>A (p.Arg1819Gln) rs764212214 0.00002
NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser) rs535608443 0.00001

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