ClinVar Miner

List of variants in gene CACNA1H reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_021098.3(CACNA1H):c.5113G>A (p.Ala1705Thr) rs148651456 0.00596
NM_021098.3(CACNA1H):c.3206G>A (p.Arg1069Gln) rs57633676 0.00591
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met) rs59286323 0.00493
NM_021098.3(CACNA1H):c.4038+12C>T rs370831984 0.00414
NM_021098.3(CACNA1H):c.5173+10C>T rs72554026 0.00407
NM_021098.3(CACNA1H):c.2759C>T (p.Thr920Met) rs59052554 0.00164
NM_021098.3(CACNA1H):c.2540G>T (p.Cys847Phe) rs202019417 0.00019
NM_021098.3(CACNA1H):c.2455G>A (p.Glu819Lys) rs375165169 0.00004
NM_021098.3(CACNA1H):c.3744C>T (p.Asp1248=) rs747200195 0.00004
NM_021098.3(CACNA1H):c.2017C>T (p.Pro673Ser) rs1057520145
NM_021098.3(CACNA1H):c.4038+15G>T rs375169106

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