ClinVar Miner

List of variants in gene CRX reported as uncertain significance for Leber congenital amaurosis 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_000554.6(CRX):c.*1149G>A rs886054555
NM_000554.6(CRX):c.*118C>A rs543729483
NM_000554.6(CRX):c.*1309T>C rs886054556
NM_000554.6(CRX):c.*132G>A rs886054548
NM_000554.6(CRX):c.*1621_*1623dup rs59559801
NM_000554.6(CRX):c.*1759G>T rs886054558
NM_000554.6(CRX):c.*2113A>G rs555800382
NM_000554.6(CRX):c.*234G>A rs754333326
NM_000554.6(CRX):c.*2485C>T rs564202140
NM_000554.6(CRX):c.*252C>T rs886054549
NM_000554.6(CRX):c.*2573C>T rs886054559
NM_000554.6(CRX):c.*2785C>T rs886054560
NM_000554.6(CRX):c.*2821G>A rs571610746
NM_000554.6(CRX):c.*2850G>A rs769789306
NM_000554.6(CRX):c.*2889G>A rs886054561
NM_000554.6(CRX):c.*2952G>A rs886054562
NM_000554.6(CRX):c.*392G>A rs886054550
NM_000554.6(CRX):c.*435del rs886054551
NM_000554.6(CRX):c.*436G>T rs759530877
NM_000554.6(CRX):c.*683G>A rs867379668
NM_000554.6(CRX):c.*6G>A rs375770558
NM_000554.6(CRX):c.*746T>C rs886054552
NM_000554.6(CRX):c.*754_*756dup rs60558029
NM_000554.6(CRX):c.*756T>A rs886054553
NM_000554.6(CRX):c.*756dup rs60558029
NM_000554.6(CRX):c.*809C>G rs574128797
NM_000554.6(CRX):c.*839C>T rs541379131
NM_000554.6(CRX):c.*907C>T rs559582292
NM_000554.6(CRX):c.*908G>A rs886054554
NM_000554.6(CRX):c.-55C>T rs886054543
NM_000554.6(CRX):c.105C>A (p.Ala35=) rs886054545
NM_000554.6(CRX):c.597C>T (p.Ser199=) rs61748455
NM_000554.6(CRX):c.717C>A (p.Gly239=) rs886054546
NM_000554.6(CRX):c.78G>A (p.Met26Ile) rs886054544
NM_000554.6(CRX):c.857T>C (p.Leu286Pro) rs886054547

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