List of variants in gene AKT1 studied for PTEN hamartoma tumor syndrome

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001382430.1(AKT1):c.1032C>T (p.Cys344=)	rs56289559	0.00063
NM_001382430.1(AKT1):c.1394G>A (p.Arg465His)	rs113547523	0.00006
NM_001382430.1(AKT1):c.440T>C (p.Met147Thr)	rs758456890	0.00006
NM_001382430.1(AKT1):c.1260+5G>A	rs760365810	0.00002
NM_001382430.1(AKT1):c.1036C>T (p.Arg346Cys)	rs1168658858	0.00001
NM_001382430.1(AKT1):c.122G>A (p.Arg41Gln)	rs766000895	0.00001
NM_001382430.1(AKT1):c.1289C>T (p.Thr430Met)	rs749186394	0.00001
NM_001382430.1(AKT1):c.431G>A (p.Arg144His)	rs1060503071	0.00001
NM_001382430.1(AKT1):c.511G>A (p.Ala171Thr)	rs1016707349	0.00001
NM_001382430.1(AKT1):c.520C>T (p.Arg174Cys)	rs983007851	0.00001
NM_001382430.1(AKT1):c.1418_1420del (p.Ser473del)
NM_001382430.1(AKT1):c.176-3C>T
NM_001382430.1(AKT1):c.176-5C>A	rs377076374
NM_001382430.1(AKT1):c.237G>C (p.Gln79His)
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)	rs121434592
NM_001382430.1(AKT1):c.49_50delinsAG (p.Glu17Arg)	rs1595251483
NM_001382430.1(AKT1):c.957+6C>T

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