ClinVar Miner

List of variants reported as benign for Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val) rs9924241 0.01528
NM_021098.3(CACNA1H):c.3738G>A (p.Ser1246=) rs58812334 0.01201
NM_021098.3(CACNA1H):c.2881C>T (p.Leu961=) rs58615599 0.00607
NM_021098.3(CACNA1H):c.5324-4G>A rs57687113 0.00558
NM_021098.3(CACNA1H):c.1381C>T (p.Leu461=) rs57112868 0.00508
NM_021098.3(CACNA1H):c.1359T>C (p.Pro453=) rs60720455 0.00507
NM_021098.3(CACNA1H):c.4932G>A (p.Ser1644=) rs58764017 0.00488
NM_021098.3(CACNA1H):c.1479T>C (p.Ser493=) rs60415676 0.00425
NM_021098.3(CACNA1H):c.4038+12C>T rs370831984 0.00414
NM_021098.3(CACNA1H):c.819C>T (p.Thr273=) rs72552033 0.00150
NM_021098.3(CACNA1H):c.5173+18C>T rs373269618 0.00089
NM_021098.3(CACNA1H):c.1824G>A (p.Leu608=) rs57260464 0.00083
NM_021098.3(CACNA1H):c.3970-6C>T rs200403676 0.00053
NM_021098.3(CACNA1H):c.3300C>T (p.Leu1100=) rs568667163 0.00009
NM_021098.3(CACNA1H):c.299+15C>G rs553478910
NM_021098.3(CACNA1H):c.4038+15G>T rs375169106

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