List of variants in gene ROM1 reported as uncertain significance for Retinitis pigmentosa

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: 31

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HGVS	dbSNP	gnomAD frequency
NM_000327.4(ROM1):c.323C>T (p.Thr108Met)	rs146358003	0.00053
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.*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.*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.-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.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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