ClinVar Miner

List of variants reported as benign for Leber congenital amaurosis by Invitae

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000180.3(GUCY2D):c.1119G>A (p.Val373=) rs56034424
NM_000180.3(GUCY2D):c.3044-7G>T rs56348143
NM_000180.3(GUCY2D):c.3225-7C>T rs79887212
NM_000180.3(GUCY2D):c.3297G>A (p.Pro1099=) rs142351773
NM_001001557.4(GDF6):c.936G>C (p.Ser312=) rs148861809
NM_020366.3(RPGRIP1):c.3546C>T (p.Asp1182=) rs34116882
NM_020366.3(RPGRIP1):c.3719G>A (p.Gly1240Glu) rs34725281
NM_183059.2(RD3):c.584A>T (p.Asp195Val) rs143207434

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