ClinVar Miner

List of variants in gene CACNA1H reported by Baylor Genetics

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr) rs58173258 0.00169
NM_021098.3(CACNA1H):c.1768C>T (p.Arg590Trp) rs199920661 0.00005
NM_021098.3(CACNA1H):c.2228C>T (p.Thr743Met) rs574809183 0.00003
NM_021098.3(CACNA1H):c.2152G>C (p.Glu718Gln) rs774313309 0.00002
NM_021098.3(CACNA1H):c.2704C>T (p.Arg902Trp) rs779011503 0.00001
NM_021098.3(CACNA1H):c.2730G>C (p.Lys910Asn) rs1330732054 0.00001
NM_021098.3(CACNA1H):c.2789+16C>T rs59952053 0.00001
NM_021098.3(CACNA1H):c.5798T>C (p.Met1933Thr) rs1175867441 0.00001
NM_021098.3(CACNA1H):c.6191C>T (p.Pro2064Leu) rs1199118621 0.00001
NM_021098.3(CACNA1H):c.6965G>A (p.Arg2322Gln) rs1468102052 0.00001
NM_021098.3(CACNA1H):c.974C>T (p.Pro325Leu) rs375274586 0.00001
NM_021098.3(CACNA1H):c.145T>C (p.Ser49Pro) rs1397714230
NM_021098.3(CACNA1H):c.3599A>C (p.Asp1200Ala) rs1555515661
NM_021098.3(CACNA1H):c.3804C>G (p.Ser1268Arg) rs750607074
NM_021098.3(CACNA1H):c.3929C>T (p.Thr1310Ile) rs949144433
NM_021098.3(CACNA1H):c.502G>A (p.Gly168Ser) rs1966875937
NM_021098.3(CACNA1H):c.5374A>T (p.Ser1792Cys) rs773893318
NM_021098.3(CACNA1H):c.6131C>A (p.Thr2044Asn) rs1567558436

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