ClinVar Miner

List of variants in gene AGK reported as benign for Sengers syndrome; Cataract 38

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_018238.4(AGK):c.101+5C>T rs150421355 0.00346
NM_018238.4(AGK):c.518+18G>A rs192082201 0.00235
NM_018238.4(AGK):c.17A>G (p.Lys6Arg) rs148294392 0.00226
NM_018238.4(AGK):c.297+18A>G rs138364626 0.00225
NM_018238.4(AGK):c.424-11T>C rs200973491 0.00044
NM_018238.4(AGK):c.1088C>T (p.Thr363Met) rs142069429 0.00043
NM_018238.4(AGK):c.877+15G>A rs201052151 0.00029
NM_018238.4(AGK):c.804C>T (p.Thr268=) rs543549513 0.00006
NM_018238.4(AGK):c.619A>G (p.Thr207Ala) rs561898521 0.00001
NM_018238.4(AGK):c.424-3dup rs201762775
NM_018238.4(AGK):c.424-4C>A rs113085050
NM_018238.4(AGK):c.424-4C>G rs113085050
NM_018238.4(AGK):c.424-5C>T rs113599212

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