ClinVar Miner

List of variants in gene CACNA1F studied for Ocular albinism, type II

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001256789.3(CACNA1F):c.2673+3G>A rs41312124 0.04106
NM_001256789.3(CACNA1F):c.2334+123G>C rs185254714 0.00356
NM_001256789.3(CACNA1F):c.3439-18C>T rs199764042 0.00179
NM_001256789.3(CACNA1F):c.1108G>A (p.Val370Ile) rs782458308 0.00002
NM_001256789.3(CACNA1F):c.5504G>A (p.Arg1835Gln) rs782177944 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.245G>A (p.Arg82Gln) rs2065880189
NM_001256789.3(CACNA1F):c.2928+5C>T rs2147908085
NM_001256789.3(CACNA1F):c.3037-30G>A rs2065733290
NM_001256789.3(CACNA1F):c.3236+1G>A rs1064797371
NM_001256789.3(CACNA1F):c.3598-133_3709-76del rs2147900556
NM_001256789.3(CACNA1F):c.3708+2T>C
NM_001256789.3(CACNA1F):c.4186_4187insCCCTA (p.Gly1396fs)
NM_001256789.3(CACNA1F):c.4190_4191del (p.Glu1397fs) rs2147897090
NM_001256789.3(CACNA1F):c.4260+2del rs2065655753
NM_001256789.3(CACNA1F):c.4363T>C (p.Trp1455Arg) rs1602628260

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.