ClinVar Miner

List of variants reported as benign for Leber congenital amaurosis 1 by Invitae

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_000180.4(GUCY2D):c.1026+6C>T rs147410617
NM_000180.4(GUCY2D):c.1119G>A (p.Val373=) rs56034424
NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=) rs61749678
NM_000180.4(GUCY2D):c.1513C>T (p.Leu505=) rs146849545
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met) rs201414567
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu) rs28743021
NM_000180.4(GUCY2D):c.2155C>T (p.Leu719=) rs151106252
NM_000180.4(GUCY2D):c.2517G>A (p.Thr839=) rs56316238
NM_000180.4(GUCY2D):c.2577G>T (p.Pro859=) rs112372281
NM_000180.4(GUCY2D):c.2917G>T (p.Val973Leu) rs181567056
NM_000180.4(GUCY2D):c.3044-7G>T rs56348143
NM_000180.4(GUCY2D):c.3225-10C>T rs200705417
NM_000180.4(GUCY2D):c.3225-7C>T rs79887212
NM_000180.4(GUCY2D):c.3246C>T (p.Ser1082=) rs374580575
NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=) rs142351773

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