ClinVar Miner

List of variants studied for Congenital Stationary Night Blindness, Recessive by Illumina Laboratory Services, Illumina

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_198506.5(LRIT3):c.*684A>G rs4698798 0.81684
NM_198506.5(LRIT3):c.524G>A (p.Ser175Asn) rs4698797 0.55919
NM_198506.5(LRIT3):c.1006A>T (p.Met336Leu) rs764205 0.55477
NM_198506.5(LRIT3):c.*1123T>C rs12642452 0.46603
NM_198506.5(LRIT3):c.1638C>T (p.Pro546=) rs2347133 0.19042
NM_198506.5(LRIT3):c.1508C>T (p.Thr503Met) rs2347132 0.19028
NM_198506.5(LRIT3):c.*1271T>C rs35043368 0.18166
NM_198506.5(LRIT3):c.1548T>C (p.Thr516=) rs9994891 0.12053
NM_198506.5(LRIT3):c.168C>T (p.Pro56=) rs17040904 0.03935
NM_198506.5(LRIT3):c.*854C>T rs6830168 0.03922
NM_198506.5(LRIT3):c.*498G>C rs74634233 0.03328
NM_198506.5(LRIT3):c.505C>A (p.Pro169Thr) rs61745483 0.02563
NM_198506.5(LRIT3):c.565C>T (p.Leu189Phe) rs75301950 0.01000
NM_198506.5(LRIT3):c.*1391del rs200634605 0.00815
NM_198506.5(LRIT3):c.*103A>G rs76050257 0.00663
NM_198506.5(LRIT3):c.1509G>A (p.Thr503=) rs76587489 0.00652
NM_198506.5(LRIT3):c.*550G>A rs76150278 0.00649
NM_198506.5(LRIT3):c.-14C>G rs77613966 0.00622
NM_198506.5(LRIT3):c.1455C>T (p.Ala485=) rs149304853 0.00168
NM_145200.5(CABP4):c.*2313del rs886048580 0.00108
NM_001004334.4(GPR179):c.1837T>A (p.Phe613Ile) rs190745934 0.00019
NM_145200.5(CABP4):c.242C>T (p.Ala81Val) rs148140510 0.00016
NM_004727.3(SLC24A1):c.70C>T (p.Arg24Cys) rs371550495 0.00004
NM_001252024.2(TRPM1):c.4369A>G (p.Met1457Val) rs760089242 0.00001
NM_004727.3(SLC24A1):c.*1222G>C rs886051355 0.00001
NM_001004334.4(GPR179):c.*338G>A rs886052894
NM_001004334.4(GPR179):c.3310_3312del (p.Lys1104del) rs751393018
NM_001004334.4(GPR179):c.6075A>T (p.Glu2025Asp) rs759650403
NM_001004334.4(GPR179):c.810G>A (p.Met270Ile) rs886052898
NM_001252024.2(TRPM1):c.*29dup rs563082388
NM_001252024.2(TRPM1):c.*540dup rs886051028
NM_001252024.2(TRPM1):c.1820A>G (p.Lys607Arg) rs753959724
NM_145200.5(CABP4):c.*1813dup rs200446327
NM_145200.5(CABP4):c.*1851TA[5] rs1554998699
NM_145200.5(CABP4):c.*1851TA[6] rs1554998699
NM_145200.5(CABP4):c.*1854_*1855insCACA rs759157298
NM_145200.5(CABP4):c.*1856_*1857insCA rs533020503
NM_145200.5(CABP4):c.*1856_*1857insCACA rs533020503
NM_145200.5(CABP4):c.*1857CA[3] rs533020503
NM_145200.5(CABP4):c.*1857delinsCACACACAC rs886048569
NM_145200.5(CABP4):c.*1858_*1859insTACA rs1554998700
NM_145200.5(CABP4):c.*1858_*1859insTACACA rs1554998700
NM_145200.5(CABP4):c.*1859CA[11] rs35146220
NM_145200.5(CABP4):c.*1859CA[14] rs35146220
NM_145200.5(CABP4):c.*1859CA[15] rs35146220
NM_145200.5(CABP4):c.*1859CA[16] rs35146220
NM_145200.5(CABP4):c.*1859_*1873delinsT rs886048571
NM_145200.5(CABP4):c.*1878_*1879insTA rs886048572
NM_145200.5(CABP4):c.*2176dup rs754783722
NM_145200.5(CABP4):c.*2327del rs796540356
NM_145200.5(CABP4):c.*394dup rs3835327
NM_145200.5(CABP4):c.541+7_541+8delinsGC rs34039523
NM_198506.5(LRIT3):c.1184CTT[1] (p.Ser396del) rs794727660
NM_198506.5(LRIT3):c.1456G>A (p.Ala486Thr) rs2347131
NM_198506.5(LRIT3):c.1752_1754del (p.Leu585del) rs145776307
NM_198506.5(LRIT3):c.331C>G (p.Arg111Gly) rs79039619

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