ClinVar Miner

List of variants in gene CACNA1F reported by OMIM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NG_009095.2:g.(16929_16947)_(21383_21401)del
NM_001256789.3(CACNA1F):c.1106G>A (p.Gly369Asp) rs122456133
NM_001256789.3(CACNA1F):c.2234T>C (p.Ile745Thr) rs122456136
NM_001256789.3(CACNA1F):c.2509G>A (p.Gly837Ser) rs863225090
NM_001256789.3(CACNA1F):c.2650C>T (p.Arg884Ter) rs122456135
NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter) rs122456134
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs) rs80359870
NM_001256789.3(CACNA1F):c.3439-1_3442delinsTGG rs863223294
NM_001256789.3(CACNA1F):c.3598-133_3709-76del rs2147900556

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