ClinVar Miner

List of variants in gene CACNA1H reported as likely pathogenic for not provided

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_021098.3(CACNA1H):c.2230C>T (p.Arg744Ter) rs1437449624 0.00001
NM_021098.3(CACNA1H):c.1793C>T (p.Ala598Val) rs1057518033
NM_021098.3(CACNA1H):c.3248C>T (p.Thr1083Met) rs1064793076
NM_021098.3(CACNA1H):c.5288A>G (p.Tyr1763Cys) rs2141386055
NM_021098.3(CACNA1H):c.697G>C (p.Val233Leu) rs1555510028

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