ClinVar Miner

List of variants in gene CRX reported as pathogenic for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
Download table as spreadsheet
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
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.116_127del (p.Gln39_Glu42del)
NM_000554.6(CRX):c.124G>A (p.Glu42Lys) rs863224863
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.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.262_275del (p.Phe87_Lys88insTer) rs1968160841
NM_000554.6(CRX):c.292C>T (p.Arg98Ter) rs751018117
NM_000554.6(CRX):c.404del (p.Pro135fs) rs1064797246
NM_000554.6(CRX):c.431_434del (p.Pro144fs) rs1968165008
NM_000554.6(CRX):c.447dup (p.Ser150fs) rs61748444
NM_000554.6(CRX):c.449C>G (p.Ser150Ter) rs864309706
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.502del (p.Glu168fs) rs1568626209
NM_000554.6(CRX):c.512del (p.Leu171fs) rs1968166909
NM_000554.6(CRX):c.523C>T (p.Gln175Ter) rs1968167093
NM_000554.6(CRX):c.534_538del (p.Leu179fs)
NM_000554.6(CRX):c.545C>G (p.Ser182Ter) rs2123743235
NM_000554.6(CRX):c.549dup (p.Pro184fs)
NM_000554.6(CRX):c.551dup (p.Ser185fs)
NM_000554.6(CRX):c.569_570del (p.Pro190fs)
NM_000554.6(CRX):c.570dup (p.Tyr191fs) rs1968168564
NM_000554.6(CRX):c.571del (p.Tyr191fs) rs61748452
NM_000554.6(CRX):c.586_587del (p.Ala196fs) rs2123743320
NM_000554.6(CRX):c.590del (p.Pro197fs) rs1968169100
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.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.714del (p.Gly239fs)
NM_000554.6(CRX):c.76_80del (p.Met26fs) rs2123738324
NM_000554.6(CRX):c.816_818delinsAA (p.Thr273fs) rs2123743692

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.