ClinVar Miner

List of variants in gene CACNA1C reported as uncertain significance by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.3946-12G>A rs41276706 0.00021
NM_000719.7(CACNA1C):c.6344G>C (p.Gly2115Ala) rs199694744 0.00016
NM_000719.7(CACNA1C):c.5444+599C>A rs551355331 0.00015
NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn) rs199473392 0.00007
NM_000719.7(CACNA1C):c.3946-51C>T rs202216172 0.00005
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680 0.00003
NM_000719.7(CACNA1C):c.5329C>T (p.Arg1777Cys) rs775251529 0.00002
NM_000719.7(CACNA1C):c.1031C>T (p.Thr344Ile) rs200935321
NM_000719.7(CACNA1C):c.1481+621C>T rs200329394
NM_000719.7(CACNA1C):c.2734C>A (p.Leu912Ile) rs786205264
NM_000719.7(CACNA1C):c.5408G>C (p.Arg1803Pro) rs201918158
NM_001167623.2(CACNA1C):c.1165G>A (p.Val389Ile) rs202180580

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