ClinVar Miner

List of variants in gene CRX reported as pathogenic for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_000554.6(CRX):c.206G>A (p.Arg69His) rs775073228 0.00002
NM_000554.6(CRX):c.268C>T (p.Arg90Trp) rs104894673 0.00002
NM_000554.6(CRX):c.118C>T (p.Arg40Trp) rs749738655 0.00001
NM_000554.6(CRX):c.119G>A (p.Arg40Gln) rs771450991 0.00001
NM_000554.6(CRX):c.121C>T (p.Arg41Trp) rs104894672 0.00001
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) rs61748436 0.00001
NM_000554.6(CRX):c.128G>A (p.Arg43His) rs771736389 0.00001
NM_000554.6(CRX):c.205C>T (p.Arg69Cys) rs771551785 0.00001
GRCh37/hg19 19q13.33(chr19:48328087-48339179)
NC_000019.9:g.(?_48337701)_(48343224_?)del
NC_000019.9:g.(?_48339480)_(48343224_?)del
NC_000019.9:g.(?_48339500)_(48343224_?)del
NC_000019.9:g.(?_48342985)_(48346262_?)del
NM_000554.6(CRX):c.100+2T>G
NM_000554.6(CRX):c.100+3_100+5delinsTTA rs1064796109
NM_000554.6(CRX):c.101-1G>T rs1968115710
NM_000554.6(CRX):c.108del (p.Arg37fs) rs2123739840
NM_000554.6(CRX):c.116_127del (p.Gln39_Glu42del)
NM_000554.6(CRX):c.120_121delinsTT (p.Arg41Trp)
NM_000554.6(CRX):c.124G>A (p.Glu42Lys) rs863224863
NM_000554.6(CRX):c.125_128dup (p.Thr44fs) rs2123739871
NM_000554.6(CRX):c.127C>T (p.Arg43Cys) rs1437021651
NM_000554.6(CRX):c.152_153del (p.Leu51fs) rs1968116898
NM_000554.6(CRX):c.159del (p.Glu53fs)
NM_000554.6(CRX):c.176_177del (p.Ala59fs) rs2123739943
NM_000554.6(CRX):c.191del (p.Pro64fs) rs1968117526
NM_000554.6(CRX):c.193G>C (p.Asp65His) rs527236062
NM_000554.6(CRX):c.238G>A (p.Glu80Lys) rs62654391
NM_000554.6(CRX):c.239A>C (p.Glu80Ala) rs104894671
NM_000554.6(CRX):c.239A>G (p.Glu80Gly) rs104894671
NM_000554.6(CRX):c.252+2T>G
NM_000554.6(CRX):c.257G>A (p.Trp86Ter)
NM_000554.6(CRX):c.262_275del (p.Phe87_Lys88insTer) rs1968160841
NM_000554.6(CRX):c.292C>T (p.Arg98Ter) rs751018117
NM_000554.6(CRX):c.313C>T (p.Gln105Ter) rs1968162133
NM_000554.6(CRX):c.323del (p.Pro108fs) rs1968162287
NM_000554.6(CRX):c.324del (p.Gly110fs) rs2123742895
NM_000554.6(CRX):c.329del (p.Gly110fs)
NM_000554.6(CRX):c.365del (p.Gly122fs) rs1968163226
NM_000554.6(CRX):c.381del (p.Ser128fs) rs1599991268
NM_000554.6(CRX):c.404del (p.Pro135fs) rs1064797246
NM_000554.6(CRX):c.407_416dup (p.Asp140fs) rs1968164438
NM_000554.6(CRX):c.426C>A (p.Tyr142Ter) rs1968164899
NM_000554.6(CRX):c.431_434del (p.Pro144fs) rs1968165008
NM_000554.6(CRX):c.435del (p.Leu146fs) rs1968165217
NM_000554.6(CRX):c.443del (p.Gly148fs) rs1968165374
NM_000554.6(CRX):c.447del (p.Ser150fs)
NM_000554.6(CRX):c.447dup (p.Ser150fs) rs61748444
NM_000554.6(CRX):c.449C>G (p.Ser150Ter) rs864309706
NM_000554.6(CRX):c.450del (p.Gly151fs) rs1968165665
NM_000554.6(CRX):c.458del (p.Pro153fs) rs1968165787
NM_000554.6(CRX):c.472del (p.Ala158fs)
NM_000554.6(CRX):c.488G>A (p.Trp163Ter)
NM_000554.6(CRX):c.489G>A (p.Trp163Ter) rs1968166379
NM_000554.6(CRX):c.494del (p.Pro165fs) rs2123743155
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer) rs1599991611
NM_000554.6(CRX):c.500del (p.Ala166_Ser167insTer)
NM_000554.6(CRX):c.501del (p.Glu168fs) rs2123743175
NM_000554.6(CRX):c.502del (p.Glu168fs) rs1568626209
NM_000554.6(CRX):c.503_504del (p.Glu168fs) rs61748446
NM_000554.6(CRX):c.509del (p.Pro170fs) rs2123743184
NM_000554.6(CRX):c.512del (p.Leu171fs) rs1968166909
NM_000554.6(CRX):c.520del (p.Ala174fs) rs281865515
NM_000554.6(CRX):c.522_523dup (p.Gln175fs) rs2123743198
NM_000554.6(CRX):c.523C>T (p.Gln175Ter) rs1968167093
NM_000554.6(CRX):c.529del (p.Ala177fs) rs61748449
NM_000554.6(CRX):c.534_538del (p.Leu179fs)
NM_000554.6(CRX):c.541_542del (p.Ala181fs)
NM_000554.6(CRX):c.545C>G (p.Ser182Ter) rs2123743235
NM_000554.6(CRX):c.549del (p.Pro184fs) rs1968167603
NM_000554.6(CRX):c.549dup (p.Pro184fs)
NM_000554.6(CRX):c.551dup (p.Ser185fs)
NM_000554.6(CRX):c.557del (p.Leu186fs)
NM_000554.6(CRX):c.561del (p.Ser188fs)
NM_000554.6(CRX):c.564del (p.Ala189fs) rs2123743284
NM_000554.6(CRX):c.569_570del (p.Pro190fs)
NM_000554.6(CRX):c.570del (p.Tyr191fs) rs1968168564
NM_000554.6(CRX):c.570dup (p.Tyr191fs) rs1968168564
NM_000554.6(CRX):c.571del (p.Tyr191fs) rs61748452
NM_000554.6(CRX):c.585C>A (p.Tyr195Ter) rs373497612
NM_000554.6(CRX):c.586_587del (p.Ala196fs) rs2123743320
NM_000554.6(CRX):c.586del (p.Ala196fs) rs1968169004
NM_000554.6(CRX):c.590del (p.Pro197fs) rs1968169100
NM_000554.6(CRX):c.591_594dup (p.Ser199fs)
NM_000554.6(CRX):c.592del (p.Ala198fs) rs1968169272
NM_000554.6(CRX):c.594_606del (p.Ser199fs) rs1968169319
NM_000554.6(CRX):c.597del (p.Ala200fs) rs2123743359
NM_000554.6(CRX):c.605del (p.Cys202fs) rs878853383
NM_000554.6(CRX):c.606C>A (p.Cys202Ter)
NM_000554.6(CRX):c.615del (p.Ser206fs) rs281865516
NM_000554.6(CRX):c.624T>G (p.Tyr208Ter) rs2123743395
NM_000554.6(CRX):c.650del (p.Gly217fs) rs281865517
NM_000554.6(CRX):c.660del (p.Tyr221fs) rs864309707
NM_000554.6(CRX):c.660dup (p.Tyr221fs) rs864309707
NM_000554.6(CRX):c.661_*3038del (p.Tyr221fs)
NM_000554.6(CRX):c.661del (p.Tyr221fs) rs864309708
NM_000554.6(CRX):c.682C>T (p.Gln228Ter)
NM_000554.6(CRX):c.692_716del (p.Gly231fs)
NM_000554.6(CRX):c.695del (p.Pro232fs) rs786205630
NM_000554.6(CRX):c.714del (p.Gly239fs)
NM_000554.6(CRX):c.728dup (p.Pro244fs) rs1968172289
NM_000554.6(CRX):c.750del (p.Thr251fs) rs2123743577
NM_000554.6(CRX):c.753del (p.Ser252fs) rs61749660
NM_000554.6(CRX):c.766C>T (p.Gln256Ter) rs1968173024
NM_000554.6(CRX):c.76_80del (p.Met26fs) rs2123738324
NM_000554.6(CRX):c.816_818delinsAA (p.Thr273fs) rs2123743692
NM_000554.6(CRX):c.816del (p.Thr273fs) rs1968173864
NM_000554.6(CRX):c.93del (p.Tyr32fs)
NM_000554.6(CRX):c.[101-1G>A];[122G>A]

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