ClinVar Miner

List of variants reported as benign for AKT3-related overgrowth spectrum

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_005465.7(AKT3):c.1416C>G (p.Ser472=) rs148332912 0.00352
NM_005465.7(AKT3):c.1359T>C (p.Asp453=) rs142844303 0.00130
NM_005465.7(AKT3):c.285-13C>T rs201603638 0.00051
NM_005465.7(AKT3):c.807C>T (p.Tyr269=) rs150205993 0.00044
NM_005465.7(AKT3):c.792C>T (p.Ser264=) rs77764554 0.00039
NM_005465.7(AKT3):c.46+12G>A rs184404650 0.00036
NM_005465.7(AKT3):c.1251+15T>C rs371365459 0.00025
NM_005465.7(AKT3):c.1398G>A (p.Pro466=) rs150573714 0.00013
NM_005465.7(AKT3):c.1163+16C>T rs781443210 0.00002
NM_005465.7(AKT3):c.1044C>T (p.Asn348=) rs199771220 0.00001
NM_005465.7(AKT3):c.173-23_173-20del rs773557899
NM_005465.7(AKT3):c.430-17dup rs780927904
NM_005465.7(AKT3):c.46+11C>T rs189753475
NM_005465.7(AKT3):c.628-9dup rs745855289

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