ClinVar Miner

List of variants in gene CRX reported as likely pathogenic

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Gene type:
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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000554.6(CRX):c.166G>A (p.Ala56Thr) rs61748437 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.897G>C (p.Leu299Phe) rs527236063 0.00001
NM_000554.6(CRX):c.100+2T>C rs281865198
NM_000554.6(CRX):c.100+3_100+5delinsTTA rs1064796109
NM_000554.6(CRX):c.101-1G>A rs1968115710
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.164dup (p.Ala56fs) rs1555801777
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.24dup (p.Pro9fs) rs62636512
NM_000554.6(CRX):c.263A>G (p.Lys88Arg) rs1001151383
NM_000554.6(CRX):c.274G>A (p.Ala92Thr) rs786205521
NM_000554.6(CRX):c.295C>T (p.Gln99Ter) rs1555801963
NM_000554.6(CRX):c.381dup (p.Ser128fs) rs1599991268
NM_000554.6(CRX):c.404del (p.Pro135fs) rs1064797246
NM_000554.6(CRX):c.431_434del (p.Pro144fs) rs1968165008
NM_000554.6(CRX):c.437_449del (p.Leu146fs) rs1968165080
NM_000554.6(CRX):c.445_467del (p.Pro149fs)
NM_000554.6(CRX):c.448_449del (p.Ser150fs) rs1555801989
NM_000554.6(CRX):c.463dup (p.Thr155fs) rs2123743110
NM_000554.6(CRX):c.480_481del (p.Ser161fs) rs1599991538
NM_000554.6(CRX):c.533_545dup (p.Gly183fs) rs2123743219
NM_000554.6(CRX):c.545C>G (p.Ser182Ter) rs2123743235
NM_000554.6(CRX):c.565del (p.Ala189fs) rs1568626289
NM_000554.6(CRX):c.586del (p.Ala196fs) rs1968169004
NM_000554.6(CRX):c.605del (p.Cys202fs) rs878853383
NM_000554.6(CRX):c.621_623delinsTT (p.Tyr208fs) rs1968170098
NM_000554.6(CRX):c.648del (p.Ser216fs) rs869312175
NM_000554.6(CRX):c.663C>A (p.Tyr221Ter) rs1064797247
NM_000554.6(CRX):c.663C>G (p.Tyr221Ter)
NM_000554.6(CRX):c.684G>C (p.Gln228His) rs756105390
NM_000554.6(CRX):c.695del (p.Pro232fs) rs786205630
NM_000554.6(CRX):c.727G>T (p.Gly243Ter)
NM_000554.6(CRX):c.761_804dup (p.Phe269fs)
NM_000554.6(CRX):c.766C>T (p.Gln256Ter) rs1968173024
NM_000554.6(CRX):c.774T>A (p.Tyr258Ter) rs767273026
NM_000554.6(CRX):c.827G>A (p.Trp276Ter) rs1599992622
NM_000554.6(CRX):c.856_865delinsGATCCC (p.Leu286fs) rs1555802058
NM_000554.6(CRX):c.898T>C (p.Ter300Gln) rs1599992745

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