ClinVar Miner

List of variants studied for Cone-Rod Dystrophy, Dominant by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_031220.4(PITPNM3):c.*3452del rs753516251 0.42097
NM_031220.4(PITPNM3):c.*3453_*3454insA rs879195140 0.38880
NM_000554.5(CRX):c.-116T>C rs10418215 0.08435
NM_014989.7(RIMS1):c.*1390dup rs142802827 0.01135
NM_001319074.4(RAX2):c.-331C>T rs150444854 0.00246
NM_031220.4(PITPNM3):c.2307-13del rs553739885 0.00205
NM_001319074.4(RAX2):c.*477del rs753823753 0.00064
NM_001319074.4(RAX2):c.*1145G>A rs886054365 0.00005
NM_014989.7(RIMS1):c.4259T>C (p.Val1420Ala) rs373553229 0.00004
NM_031220.4(PITPNM3):c.62G>A (p.Arg21Gln) rs200809389 0.00004
NM_014989.7(RIMS1):c.*1705C>T rs886061722 0.00002
NM_014989.7(RIMS1):c.4057A>G (p.Thr1353Ala) rs886061709 0.00002
NM_000322.4(PRPH2):c.-282G>A rs886061408 0.00001
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly) rs767471467 0.00001
NM_014989.7(RIMS1):c.*538C>T rs886061713 0.00001
NM_000322.5(PRPH2):c.*468_*469del rs886061401
NM_000322.5(PRPH2):c.*483_*484dup rs55851577
NM_000322.5(PRPH2):c.*484del rs55851577
NM_000554.6(CRX):c.*1621_*1623dup rs59559801
NM_000554.6(CRX):c.*1654dup rs138321430
NM_000554.6(CRX):c.*1900del rs796977583
NM_000554.6(CRX):c.*308AAG[2] rs398059782
NM_000554.6(CRX):c.*435del rs886054551
NM_000554.6(CRX):c.*754_*756dup rs60558029
NM_000554.6(CRX):c.*756dup rs60558029
NM_001319074.4(RAX2):c.*1082_*1092del rs143816706
NM_001319074.4(RAX2):c.*1205G>A rs886054364
NM_001319074.4(RAX2):c.*721_*724del rs138512126
NM_006017.3(PROM1):c.*84del rs112952685
NM_006017.3(PROM1):c.-37C>T rs776360269
NM_006017.3(PROM1):c.2374-14dup rs370477050
NM_006017.3(PROM1):c.2374-5dup rs34269395
NM_006017.3(PROM1):c.785-11T>G rs886059204
NM_014989.7(RIMS1):c.*1453dup rs537509888
NM_014989.7(RIMS1):c.*1457dup rs886061718
NM_014989.7(RIMS1):c.*517dup rs201958591
NM_014989.7(RIMS1):c.-182_-180dup rs555947867
NM_014989.7(RIMS1):c.1382C>T (p.Ala461Val) rs886061706
NM_014989.7(RIMS1):c.4618+20del rs113359739
NM_014989.7(RIMS1):c.4618+20dup rs113359739
NM_031220.4(PITPNM3):c.*2024_*2025del rs570855209
NM_031220.4(PITPNM3):c.*2037del rs552929922
NM_031220.4(PITPNM3):c.*2183_*2184del rs886053294
NM_031220.4(PITPNM3):c.*2196AG[10] rs147582461
NM_031220.4(PITPNM3):c.*2196AG[7] rs147582461
NM_031220.4(PITPNM3):c.*2305_*2308del rs760233482
NM_031220.4(PITPNM3):c.*2306delinsAAGGAAGACAGAGAG rs886053291
NM_031220.4(PITPNM3):c.*2316GA[7] rs112833778
NM_031220.4(PITPNM3):c.*2316GA[8] rs112833778
NM_031220.4(PITPNM3):c.*2316GA[9] rs112833778
NM_031220.4(PITPNM3):c.*2336_*2337del rs144836655
NM_031220.4(PITPNM3):c.*2345AG[6] rs796340486
NM_031220.4(PITPNM3):c.*2363AG[7] rs886053289
NM_031220.4(PITPNM3):c.*2381AG[5] rs553650590
NM_031220.4(PITPNM3):c.*3445_*3446insT rs55984944
NM_031220.4(PITPNM3):c.*3446_*3452delinsTGGCGGGGG rs886053278
NM_031220.4(PITPNM3):c.*3447dup rs1555549918
NM_031220.4(PITPNM3):c.*3448_*3449insCGG rs886053279
NM_031220.4(PITPNM3):c.*3452_*3453del rs796279837
NM_031220.4(PITPNM3):c.*3453_*3454insC rs879195140
NM_031220.4(PITPNM3):c.*3455_*3456insT rs886053277
NM_031220.4(PITPNM3):c.*3456_*3457insT rs200905881
NM_031220.4(PITPNM3):c.*3463_*3464insCG rs1555549891
NM_031220.4(PITPNM3):c.*3464del rs750929247
NM_031220.4(PITPNM3):c.*3464dup rs750929247
NM_031220.4(PITPNM3):c.*34dup rs748647107
NM_031220.4(PITPNM3):c.*3555del rs61555153
NM_031220.4(PITPNM3):c.*582dup rs57661669
NM_031220.4(PITPNM3):c.*959del rs560454526

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