ClinVar Miner

List of variants in gene ROM1 studied for Retinitis pigmentosa

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Gene type:
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Total variants: 45
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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.178C>A (p.Pro60Thr) rs199757012
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

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