ClinVar Miner

List of variants in gene CACNA1B studied for Dystonia 23

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000718.4(CACNA1B):c.4166G>A (p.Arg1389His) rs184841813 0.00043
NM_000718.4(CACNA1B):c.6840C>T (p.Phe2280=) rs201383337 0.00025
NM_000718.4(CACNA1B):c.2636C>A (p.Pro879His) rs1036442743 0.00001
NM_000718.4(CACNA1B):c.3862G>A (p.Val1288Ile) rs1959395759
NM_000718.4(CACNA1B):c.4953C>A (p.Ser1651Arg) rs200540820
NM_000718.4(CACNA1B):c.5233A>G (p.Ser1745Gly) rs1554758384

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