ClinVar Miner

List of variants in gene ROM1 studied for retinitis pigmentosa

Included ClinVar conditions (154):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000327.4(ROM1):c.669G>C (p.Arg223=) rs1801144 0.26271
NM_000327.3(ROM1):c.-329G>T rs3923805 0.21125
NM_000327.3(ROM1):c.-438G>A rs576371643 0.00715
NM_000327.4(ROM1):c.812T>C (p.Met271Thr) rs137950927 0.00178
NM_000327.4(ROM1):c.81G>T (p.Leu27=) rs148196509 0.00152
NM_000327.4(ROM1):c.47G>A (p.Arg16His) rs143166696 0.00125
NM_000327.4(ROM1):c.323C>T (p.Thr108Met) rs146358003 0.00053
NM_000327.4(ROM1):c.703G>A (p.Ala235Thr) rs149255362 0.00051
NM_000327.4(ROM1):c.342C>T (p.Leu114=) rs537377404 0.00049
NM_000327.4(ROM1):c.339dup (p.Leu114fs) rs71458427 0.00033
NM_000327.4(ROM1):c.793G>A (p.Ala265Thr) rs200272942 0.00028
NM_000327.4(ROM1):c.986C>T (p.Ala329Val) rs139971812 0.00024
NM_000327.4(ROM1):c.593G>A (p.Arg198Gln) rs141629524 0.00013
NM_000327.4(ROM1):c.724C>T (p.Arg242Ter) rs147065010 0.00011
NM_000327.4(ROM1):c.*255C>T rs147684283 0.00008
NM_000327.4(ROM1):c.906G>A (p.Ala302=) rs200213584 0.00008
NM_000327.4(ROM1):c.*109G>A rs757950484 0.00006
NM_000327.4(ROM1):c.950A>G (p.Asp317Gly) rs199827702 0.00006
NM_000327.3(ROM1):c.-237G>T rs1029157002 0.00004
NM_000327.4(ROM1):c.859C>T (p.Arg287Trp) rs768652143 0.00004
NM_000327.4(ROM1):c.180dup (p.Val61fs) rs748976215 0.00003
NM_000327.4(ROM1):c.230G>A (p.Gly77Glu) rs1036187889 0.00003
NM_000327.4(ROM1):c.502T>C (p.Cys168Arg) rs201202592 0.00003
NM_000327.4(ROM1):c.70C>T (p.Leu24Phe) rs766769824 0.00003
NM_000327.4(ROM1):c.926A>C (p.Tyr309Ser) rs374968800 0.00003
NM_000327.4(ROM1):c.*14G>C rs202210450 0.00002
NM_000327.4(ROM1):c.422T>C (p.Leu141Ser) rs190642059 0.00002
NM_000327.4(ROM1):c.*179A>C rs886048441 0.00001
NM_000327.4(ROM1):c.1035G>A (p.Lys345=) rs144650228 0.00001
NM_000327.4(ROM1):c.183C>A (p.Val61=) rs886048440 0.00001
NM_000327.4(ROM1):c.667C>T (p.Arg223Trp) rs1204988981 0.00001
NM_000327.4(ROM1):c.974A>C (p.Gln325Pro) rs753460076 0.00001
NM_000327.3(ROM1):c.-118G>C rs886048438
NM_000327.3(ROM1):c.-27C>T rs886048439
NM_000327.3(ROM1):c.-301C>T rs886048437
NM_000327.3(ROM1):c.-482G>C rs572174792
NM_000327.3(ROM1):c.-494G>A rs3825019
NM_000327.3(ROM1):c.-495G>T rs886048435
NM_000327.3(ROM1):c.-499G>C rs539586649
NM_000327.4(ROM1):c.167C>G (p.Ser56Cys) rs199847029
NM_000327.4(ROM1):c.167C>T (p.Ser56Phe) rs199847029
NM_000327.4(ROM1):c.178C>A (p.Pro60Thr) rs199757012
NM_000327.4(ROM1):c.339del (p.Leu114fs) rs71458427
NM_000327.4(ROM1):c.397C>T (p.Leu133=) rs566866016
NM_000327.4(ROM1):c.577C>G (p.Arg193Gly) rs754473229
NM_000327.4(ROM1):c.590+13C>A rs139654544
NM_000327.4(ROM1):c.629A>G (p.Asp210Gly) rs200287184

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.