ClinVar Miner

Variants in gene CACNA1F with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_001256789.3(CACNA1F):c.1075G>A (p.Gly359Arg) rs2147921112
NM_001256789.3(CACNA1F):c.2038C>T (p.Arg680Ter) rs782074040
NM_001256789.3(CACNA1F):c.3019G>A (p.Gly1007Arg) rs1249437161
NM_001256789.3(CACNA1F):c.3236+1G>A rs1064797371
NM_001256789.3(CACNA1F):c.5004_5005del (p.Leu1670fs) rs1557105474
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del) rs1557110499

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