ClinVar Miner

List of variants studied for Retinal dystrophy by Illumina Laboratory Services, Illumina

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_004744.5(LRAT):c.*817A>G rs78274322 0.09886
NM_004744.5(LRAT):c.*1867C>T rs78441257 0.09872
NM_021728.4(OTX2):c.*10G>A rs171978 0.06420
NM_004744.5(LRAT):c.*3618G>A rs17032002 0.02639
NM_021728.4(OTX2):c.*340del rs3215889 0.02501
NM_021728.4(OTX2):c.97+12C>T rs28757218 0.00889
NM_004744.5(LRAT):c.*1155T>A rs72683214 0.00883
NM_004744.5(LRAT):c.*2529C>T rs185391295 0.00852
NM_004744.5(LRAT):c.*2741_*2743dup rs528370871 0.00287
NM_004744.5(LRAT):c.*3654T>C rs191784588 0.00176
NM_021728.4(OTX2):c.-119-101C>T rs534764707 0.00142
NM_004744.5(LRAT):c.*3980T>C rs191125324 0.00048
NM_021728.4(OTX2):c.*779G>A rs138197536 0.00041
NM_004744.5(LRAT):c.*3978C>T rs886059180 0.00022
NM_021728.4(OTX2):c.273+11T>C rs371958059 0.00021
NM_021728.4(OTX2):c.*316G>A rs142727455 0.00015
NM_004744.5(LRAT):c.*1281C>A rs572110901 0.00010
NM_021728.4(OTX2):c.-119-65G>T rs886050561 0.00010
NM_004744.5(LRAT):c.*632T>C rs886059166 0.00009
NM_004744.5(LRAT):c.*106T>C rs189439579 0.00006
NM_021728.4(OTX2):c.*966A>G rs57390094 0.00006
NM_004744.5(LRAT):c.-84C>T rs886059160 0.00004
NM_004744.5(LRAT):c.*2190C>T rs886059169 0.00003
NM_021728.4(OTX2):c.*647A>G rs886050557 0.00003
NM_021728.4(OTX2):c.270G>T (p.Val90=) rs747916036 0.00003
NM_004744.5(LRAT):c.*671A>G rs886059167 0.00001
NM_004744.5(LRAT):c.*826C>T rs778612442 0.00001
NM_004744.5(LRAT):c.244A>G (p.Thr82Ala) rs747900628 0.00001
NM_004744.5(LRAT):c.*2258_*2259insTGTTGTGCTGAGTTT rs372786858
NM_004744.5(LRAT):c.*2310A>T rs368622887
NM_004744.5(LRAT):c.*2396C>G rs867110135
NM_004744.5(LRAT):c.*2477_*2479del rs769393659
NM_004744.5(LRAT):c.*2968C>G rs886059175
NM_004744.5(LRAT):c.*298_*301del rs886059162
NM_004744.5(LRAT):c.*313del rs146990234
NM_004744.5(LRAT):c.*329T>C rs886059164
NM_004744.5(LRAT):c.*3435A>C rs886059176
NM_004744.5(LRAT):c.*3459dup rs369562633
NM_004744.5(LRAT):c.*3729del rs886059177
NM_004744.5(LRAT):c.*3770A>G rs886059178
NM_004744.5(LRAT):c.*3958G>A rs886059179
NM_021728.4(OTX2):c.*566GT[3] rs886050558
NM_021728.4(OTX2):c.*648C>G rs886050556
NM_021728.4(OTX2):c.*933C>T rs886050555
NM_021728.4(OTX2):c.-119-24TTTG[2] rs886050560
NM_021728.4(OTX2):c.380G>C (p.Arg127Pro) rs199799627

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