List of variants in gene CACNA1F reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001256789.3(CACNA1F):c.244C>T (p.Arg82Ter)	rs797044676	0.00001
NM_001256789.3(CACNA1F):c.1118+1G>C	rs2065841382
NM_001256789.3(CACNA1F):c.2791_2792del (p.Met931fs)	rs1602639528
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs)	rs80359870
NM_001256789.3(CACNA1F):c.342del (p.Phe115fs)
NM_001256789.3(CACNA1F):c.3862C>T (p.Arg1288Ter)	rs2065670611
NM_001256789.3(CACNA1F):c.396C>G (p.Tyr132Ter)	rs2065872186
NM_001256789.3(CACNA1F):c.431_432dup (p.Lys145fs)
NM_001256789.3(CACNA1F):c.5481G>A (p.Trp1827Ter)	rs2065589645
NM_001256789.3(CACNA1F):c.784C>T (p.Arg262Ter)	rs1557110988

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