ClinVar Miner

List of variants in gene RPGR reported as likely pathogenic by Invitae

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000328.3(RPGR):c.1906-2A>G
NM_001034853.2(RPGR):c.1414+1G>A
NM_001034853.2(RPGR):c.1414+1G>C
NM_001034853.2(RPGR):c.1573-8A>G rs62635011
NM_001034853.2(RPGR):c.1754-214_1801del
NM_001034853.2(RPGR):c.247+1G>A
NM_001034853.2(RPGR):c.311-1G>A
NM_001034853.2(RPGR):c.334G>A (p.Gly112Ser)
NM_001034853.2(RPGR):c.3395del (p.Asn1132fs)
NM_001034853.2(RPGR):c.442G>A (p.Gly148Arg) rs2067876063
NM_001034853.2(RPGR):c.493G>C (p.Gly165Arg) rs2067847091
NM_001034853.2(RPGR):c.592G>A (p.Gly198Arg) rs1601972255
NM_001034853.2(RPGR):c.619+2_619+5del
NM_001034853.2(RPGR):c.620-2A>G
NM_001034853.2(RPGR):c.749G>A (p.Cys250Tyr) rs1601961064
NM_001034853.2(RPGR):c.779-1G>A rs62638655
NM_001034853.2(RPGR):c.800G>T (p.Gly267Val) rs2147248019
NM_001034853.2(RPGR):c.814G>T (p.Gly272Cys)
NM_001034853.2(RPGR):c.824G>A (p.Gly275Asp)
NM_001034853.2(RPGR):c.905G>A (p.Cys302Tyr) rs62640590

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