ClinVar Miner

List of variants in gene RPGR studied for X-linked cone-rod dystrophy 1

Included ClinVar conditions (4):
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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000328.3(RPGR):c.2241+11T>C rs4084271 0.20121
NM_001034853.2(RPGR):c.1164G>A (p.Ala388=) rs1801686 0.11812
NM_000328.3(RPGR):c.2149+46C>T rs41312110 0.03703
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_001034853.2(RPGR):c.552G>T (p.Gln184His) rs5963403 0.02128
NM_001034853.2(RPGR):c.2057T>A (p.Met686Lys) rs151247357 0.00794
NM_001034853.2(RPGR):c.2793G>A (p.Glu931=) rs1446705794 0.00203
NM_001034853.2(RPGR):c.1240G>C (p.Glu414Gln) rs150549982 0.00046
NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala) rs768169831 0.00012
NM_001034853.2(RPGR):c.1059+9A>G rs781086486 0.00001
NM_001034853.2(RPGR):c.1348T>C (p.Cys450Arg) rs794727019 0.00001
NM_001034853.2(RPGR):c.1225del (p.Arg409fs)
NM_001034853.2(RPGR):c.1302dup (p.Leu435fs)
NM_001034853.2(RPGR):c.1573-2A>G rs62635009
NM_001034853.2(RPGR):c.1753+2T>G
NM_001034853.2(RPGR):c.2149C>T (p.Gln717Ter)
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2260G>T (p.Glu754Ter) rs2067187550
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.2432GAGGGGAAGTAGAGG[1] (p.811GGEVE[1]) rs777850798
NM_001034853.2(RPGR):c.2481AGAGGA[1] (p.Glu831_Glu832del)
NM_001034853.2(RPGR):c.2512del (p.Glu838fs) rs2147197281
NM_001034853.2(RPGR):c.2606_2620del (p.Glu869_Glu873del) rs200824587
NM_001034853.2(RPGR):c.2624_2643del (p.Glu875fs)
NM_001034853.2(RPGR):c.2691GGA[1] (p.Glu899del) rs745428229
NM_001034853.2(RPGR):c.2847_2848inv (p.Glu949_Glu950delinsAspTer)
NM_001034853.2(RPGR):c.2929G>T (p.Gly977Ter) rs137852551
NM_001034853.2(RPGR):c.3032del (p.Gly1011fs)
NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs) rs606231181
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs) rs1186795749
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs) rs606231180
NM_001034853.2(RPGR):c.311-1G>A
NM_001034853.2(RPGR):c.3178_3179del (p.Glu1060fs) rs771214648
NM_001034853.2(RPGR):c.3198_3214dup (p.Thr1072fs)
NM_001034853.2(RPGR):c.3208C>T (p.Gln1070Ter)
NM_001034853.2(RPGR):c.3238C>T (p.Gln1080Ter)
NM_001034853.2(RPGR):c.485_486del (p.Phe162fs) rs281865297
NM_001034853.2(RPGR):c.494G>A (p.Gly165Asp) rs1601972449

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