ClinVar Miner

List of variants reported as benign for Leber congenital amaurosis 1 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_000180.4(GUCY2D):c.2345T>A (p.Leu782His) rs8069344 0.19323
NM_000180.4(GUCY2D):c.2109G>A (p.Ala703=) rs56130505 0.10985
NM_000180.4(GUCY2D):c.741C>T (p.His247=) rs3829789 0.10665
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402 0.09880
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_000180.4(GUCY2D):c.3044-7G>T rs56348143 0.02739
NM_000180.4(GUCY2D):c.3225-7C>T rs79887212 0.02051
NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=) rs142351773 0.01958
NM_000180.4(GUCY2D):c.1119G>A (p.Val373=) rs56034424 0.01874
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu) rs28743021 0.01496
NM_000180.4(GUCY2D):c.2517G>A (p.Thr839=) rs56316238 0.01380
NM_000180.4(GUCY2D):c.3043+20G>C rs78844078 0.01374
NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=) rs55916957 0.00492
NM_000180.4(GUCY2D):c.2577G>T (p.Pro859=) rs112372281 0.00461
NM_000180.4(GUCY2D):c.1566+17G>A rs140657975 0.00357
NM_000180.4(GUCY2D):c.2917G>T (p.Val973Leu) rs181567056 0.00191
NM_000180.4(GUCY2D):c.1513C>T (p.Leu505=) rs146849545 0.00128
NM_000180.4(GUCY2D):c.2155C>T (p.Leu719=) rs151106252 0.00104
NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=) rs61749678 0.00095
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met) rs201414567 0.00057
NM_000180.4(GUCY2D):c.2413-14C>T rs189559705 0.00053
NM_000180.4(GUCY2D):c.3225-10C>T rs200705417 0.00034
NM_000180.4(GUCY2D):c.1026+6C>T rs147410617 0.00031
NM_000180.4(GUCY2D):c.1659T>G (p.Gly553=) rs766570845 0.00025
NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro) rs573367793 0.00025
NM_000180.4(GUCY2D):c.2577-15G>A rs199708312 0.00024
NM_000180.4(GUCY2D):c.3246C>T (p.Ser1082=) rs374580575 0.00016
NM_000180.4(GUCY2D):c.11G>A (p.Cys4Tyr) rs764072081 0.00013
NM_000180.4(GUCY2D):c.615C>A (p.Leu205=) rs568227769 0.00006
NM_000180.4(GUCY2D):c.1956+15del rs2545424133
NM_000180.4(GUCY2D):c.2114-9del rs2151802761
NM_000180.4(GUCY2D):c.2769+16del rs1348792278
NM_000180.4(GUCY2D):c.3043+11C>T rs116870332
NM_000180.4(GUCY2D):c.3043+15del rs2545427390
NM_000180.4(GUCY2D):c.3225-10del rs750454050

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