ClinVar Miner

List of variants reported as likely benign for cataract 38 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_018238.4(AGK):c.17A>G (p.Lys6Arg) rs148294392 0.00226
NM_018238.4(AGK):c.*992G>A rs191308473 0.00172
NM_018238.4(AGK):c.*1467T>C rs140297904 0.00022
NM_018238.4(AGK):c.26G>A (p.Arg9Gln) rs577821330 0.00013
NM_018238.4(AGK):c.804C>T (p.Thr268=) rs543549513 0.00006
NM_018238.4(AGK):c.*58G>A rs562245960 0.00001
NM_018238.4(AGK):c.424-5C>T rs113599212

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