List of variants in gene CACNA1F reported as pathogenic for X-linked disease

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: 26

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HGVS	dbSNP	gnomAD frequency
NM_001256789.3(CACNA1F):c.1276+34G>A	rs782575860	0.00002
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter)	rs886039559	0.00001
NM_001256789.3(CACNA1F):c.244C>T (p.Arg82Ter)	rs797044676	0.00001
NM_001256789.3(CACNA1F):c.2543+1G>A	rs886044841	0.00001
NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter)	rs782740998	0.00001
NM_001256789.3(CACNA1F):c.5446C>T (p.Arg1816Ter)	rs782034481	0.00001
NG_009095.2:g.(16929_16947)_(21383_21401)del
NM_001256789.3(CACNA1F):c.1044del (p.Trp349fs)
NM_001256789.3(CACNA1F):c.1106G>A (p.Gly369Asp)	rs122456133
NM_001256789.3(CACNA1F):c.157C>T (p.Gln53Ter)
NM_001256789.3(CACNA1F):c.1723del (p.Ser575fs)	rs2065808928
NM_001256789.3(CACNA1F):c.1855del (p.Leu619fs)	rs2147916504
NM_001256789.3(CACNA1F):c.1877+1G>T	rs2147916480
NM_001256789.3(CACNA1F):c.2504del (p.Pro835fs)	rs2147910175
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.3153G>A (p.Trp1051Ter)	rs2065717735
NM_001256789.3(CACNA1F):c.3236+1G>A	rs1064797371
NM_001256789.3(CACNA1F):c.3439-1_3442delinsTGG	rs863223294
NM_001256789.3(CACNA1F):c.3598-133_3709-76del	rs2147900556
NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter)	rs1602630650
NM_001256789.3(CACNA1F):c.4260+2del	rs2065655753
NM_001256789.3(CACNA1F):c.4471C>T (p.Arg1491Ter)	rs782581701
NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter)	rs1057518829

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