ClinVar Miner

List of variants in gene CACNA1F reported as likely pathogenic for not provided

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001256789.3(CACNA1F):c.2086-2A>G rs1358925739 0.00001
NM_001256789.3(CACNA1F):c.5359+1G>A rs1557104968 0.00001
NC_000023.10:g.(?_49074894)_(49088409_?)dup
NM_001256789.3(CACNA1F):c.1075G>A (p.Gly359Arg) rs2147921112
NM_001256789.3(CACNA1F):c.1490+1G>T
NM_001256789.3(CACNA1F):c.1491-2A>G
NM_001256789.3(CACNA1F):c.1651+2T>C rs2147917894
NM_001256789.3(CACNA1F):c.1877+2T>G rs2147916471
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln) rs2065880189
NM_001256789.3(CACNA1F):c.2544-3C>G rs1085307529
NM_001256789.3(CACNA1F):c.2638G>A (p.Glu880Lys) rs2147909623
NM_001256789.3(CACNA1F):c.2674-2A>G rs2147909115
NM_001256789.3(CACNA1F):c.2734-2A>G
NM_001256789.3(CACNA1F):c.2929-1G>A rs2147907573
NM_001256789.3(CACNA1F):c.3019G>A (p.Gly1007Arg) rs1249437161
NM_001256789.3(CACNA1F):c.3020G>A (p.Gly1007Glu) rs1064794711
NM_001256789.3(CACNA1F):c.3036+1G>A
NM_001256789.3(CACNA1F):c.3090-2A>T rs2147905040
NM_001256789.3(CACNA1F):c.3145C>T (p.Arg1049Trp) rs2147904860
NM_001256789.3(CACNA1F):c.3236+1G>A rs1064797371
NM_001256789.3(CACNA1F):c.3438+1G>A
NM_001256789.3(CACNA1F):c.3438+2T>C
NM_001256789.3(CACNA1F):c.3597+2T>C
NM_001256789.3(CACNA1F):c.3709-2A>C rs1057523895
NM_001256789.3(CACNA1F):c.3792+2T>C
NM_001256789.3(CACNA1F):c.3793-1G>A
NM_001256789.3(CACNA1F):c.381+1G>A rs2147925559
NM_001256789.3(CACNA1F):c.3813+2T>C rs971641043
NM_001256789.3(CACNA1F):c.4101-2A>T
NM_001256789.3(CACNA1F):c.4389-1G>A
NM_001256789.3(CACNA1F):c.4462T>C (p.Cys1488Arg) rs2147896131
NM_001256789.3(CACNA1F):c.5004_5005del (p.Leu1670fs) rs1557105474
NM_001256789.3(CACNA1F):c.5124-2_5124-1del
NM_001256789.3(CACNA1F):c.521+1G>A
NM_001256789.3(CACNA1F):c.522-16G>A rs2147924614
NM_001256789.3(CACNA1F):c.522-1G>A
NM_001256789.3(CACNA1F):c.5473-1G>A
NM_001256789.3(CACNA1F):c.665-1G>A rs2147924133
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del) rs1557110499

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