List of variants in gene CACNA1F reported as likely pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001256789.3(CACNA1F):c.3853C>T (p.Arg1285Cys)	rs1557106557	0.00001
NM_001256789.3(CACNA1F):c.1305_1306insT (p.Arg436Ter)	rs1557110046
NM_001256789.3(CACNA1F):c.1433_1463+7del	rs1557109912
NM_001256789.3(CACNA1F):c.1505_1509del (p.Arg502fs)	rs1557109796
NM_001256789.3(CACNA1F):c.2733+1G>A	rs1557108147
NM_001256789.3(CACNA1F):c.3180T>G (p.Asn1060Lys)	rs1557107417
NM_001256789.3(CACNA1F):c.3308_3309del (p.Ser1103fs)	rs1557107192
NM_001256789.3(CACNA1F):c.3595C>T (p.Gln1199Ter)	rs782362725
NM_001256789.3(CACNA1F):c.4439C>T (p.Pro1480Leu)	rs1557106008
NM_001256789.3(CACNA1F):c.784C>T (p.Arg262Ter)	rs1557110988
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del)	rs1557110499

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