ClinVar Miner

List of variants in gene CRX reported as uncertain significance for Retinitis pigmentosa

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Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_000554.6(CRX):c.*436G>T rs759530877 0.01473
NM_000554.6(CRX):c.*756T>A rs886054553 0.00270
NM_000554.6(CRX):c.*839C>T rs541379131 0.00239
NM_000554.6(CRX):c.*683G>A rs867379668 0.00149
NM_000554.6(CRX):c.*727C>T rs1360823353 0.00103
NM_000554.6(CRX):c.*2113A>G rs555800382 0.00065
NM_000554.6(CRX):c.28C>G (p.His10Asp) rs139340178 0.00060
NM_000554.6(CRX):c.*392G>A rs886054550 0.00043
NM_000554.6(CRX):c.*2821G>A rs571610746 0.00041
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_000554.6(CRX):c.-46C>T rs755040084 0.00022
NM_000554.6(CRX):c.549G>A (p.Gly183=) rs61748451 0.00020
NM_000554.6(CRX):c.*205G>A rs995250251 0.00018
NM_000554.6(CRX):c.*1759G>T rs886054558 0.00017
NM_000554.6(CRX):c.*2404C>T rs544403161 0.00016
NM_000554.6(CRX):c.*907C>T rs559582292 0.00015
NM_000554.6(CRX):c.*746T>C rs886054552 0.00014
NM_000554.6(CRX):c.*6G>A rs375770558 0.00013
NM_000554.6(CRX):c.*2402G>T rs901623400 0.00012
NM_000554.6(CRX):c.765C>T (p.Gly255=) rs145913500 0.00012
NM_000554.6(CRX):c.*809C>G rs574128797 0.00010
NM_000554.6(CRX):c.*2040G>A rs139340702 0.00009
NM_000554.6(CRX):c.*2343G>A rs928747077 0.00008
NM_000554.6(CRX):c.*16T>C rs371964860 0.00006
NM_000554.6(CRX):c.*2357G>A rs1053302157 0.00005
NM_000554.6(CRX):c.*498G>A rs1004933827 0.00005
NM_000554.6(CRX):c.606C>T (p.Cys202=) rs764877352 0.00005
NM_000554.6(CRX):c.*2589T>C rs530478127 0.00004
NM_000554.6(CRX):c.*132G>A rs886054548 0.00003
NM_000554.6(CRX):c.*2573C>T rs886054559 0.00003
NM_000554.6(CRX):c.*2889G>A rs886054561 0.00003
NM_000554.6(CRX):c.*2485C>T rs564202140 0.00002
NM_000554.6(CRX):c.*2611G>A rs1329072003 0.00002
NM_000554.6(CRX):c.*252C>T rs886054549 0.00001
NM_000554.6(CRX):c.*2544G>A rs1281739542 0.00001
NM_000554.6(CRX):c.*2785C>T rs886054560 0.00001
NM_000554.6(CRX):c.*79C>T rs769100863 0.00001
NM_000554.6(CRX):c.*908G>A rs886054554 0.00001
NM_000554.6(CRX):c.205C>T (p.Arg69Cys) rs771551785 0.00001
NM_000554.6(CRX):c.78G>A (p.Met26Ile) rs886054544 0.00001
NM_000554.4:c.(?_-1)_(*1_?)dup
NM_000554.6(CRX):c.*110C>A rs1968176550
NM_000554.6(CRX):c.*1149G>A rs886054555
NM_000554.6(CRX):c.*1223A>G rs1968192567
NM_000554.6(CRX):c.*1309T>C rs886054556
NM_000554.6(CRX):c.*1330C>T rs1049141176
NM_000554.6(CRX):c.*2225A>G rs1968205705
NM_000554.6(CRX):c.*234G>A rs754333326
NM_000554.6(CRX):c.*2580G>A rs1968211334
NM_000554.6(CRX):c.*272T>C rs1286758532
NM_000554.6(CRX):c.*2850G>A rs769789306
NM_000554.6(CRX):c.*2935G>T rs1968215891
NM_000554.6(CRX):c.*2952G>A rs886054562
NM_000554.6(CRX):c.*2979T>C rs1968216535
NM_000554.6(CRX):c.*3077C>G rs965939233
NM_000554.6(CRX):c.*3099C>T rs1968218106
NM_000554.6(CRX):c.-55C>T rs886054543
NM_000554.6(CRX):c.105C>A (p.Ala35=) rs886054545
NM_000554.6(CRX):c.139A>C (p.Thr47Pro) rs1939392843
NM_000554.6(CRX):c.400G>A (p.Asp134Asn) rs1968164288
NM_000554.6(CRX):c.565G>C (p.Ala189Pro) rs142111462
NM_000554.6(CRX):c.616T>C (p.Ser206Pro) rs1193377720
NM_000554.6(CRX):c.651C>T (p.Gly217=) rs1968170615
NM_000554.6(CRX):c.717C>A (p.Gly239=) rs886054546
NM_000554.6(CRX):c.857T>C (p.Leu286Pro) rs886054547

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