ClinVar Miner

List of variants in gene CACNA1H reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_021098.3(CACNA1H):c.4039-4G>A rs57315342 0.00287
NM_021098.3(CACNA1H):c.1844C>T (p.Thr615Met) rs368976749 0.00032
NM_021098.3(CACNA1H):c.3555G>A (p.Ala1185=) rs370039255 0.00032
NM_021098.3(CACNA1H):c.4488G>A (p.Ser1496=) rs377112179 0.00029
NM_021098.3(CACNA1H):c.926G>A (p.Arg309His) rs201651793 0.00021
NM_021098.3(CACNA1H):c.2069C>T (p.Ala690Val) rs61018135 0.00020
NM_021098.3(CACNA1H):c.6678G>A (p.Thr2226=) rs398124369 0.00004
NM_021098.3(CACNA1H):c.952G>A (p.Gly318Ser) rs1555511075

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