ClinVar Miner

List of variants in gene ROM1 reported by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000327.4(ROM1):c.686G>A (p.Arg229His) rs150168119 0.00375
NM_000327.4(ROM1):c.339dup (p.Leu114fs) rs71458427 0.00033
NM_000327.4(ROM1):c.629A>T (p.Asp210Val) rs200287184 0.00010
NM_000327.4(ROM1):c.671C>T (p.Pro224Leu) rs781488213 0.00005
NM_000327.4(ROM1):c.859C>T (p.Arg287Trp) rs768652143 0.00004
NM_000327.4(ROM1):c.116G>A (p.Ser39Asn)
NM_000327.4(ROM1):c.338G>A (p.Gly113Glu) rs145383959
NM_000327.4(ROM1):c.338G>C (p.Gly113Ala) rs145383959
NM_000327.4(ROM1):c.339del (p.Leu114fs) rs71458427
NM_000327.4(ROM1):c.835C>T (p.Gln279Ter)
NM_000327.4(ROM1):c.923del (p.Gly308fs)

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.