ClinVar Miner

List of variants in gene AKT3 reported as likely benign for non-syndromic polydactyly

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_005465.7(AKT3):c.1163+17G>A rs367951410 0.00034
NM_005465.7(AKT3):c.1082A>G (p.Glu361Gly) rs760280114 0.00008
NM_005465.7(AKT3):c.165A>G (p.Ser55=) rs369662909 0.00007
NM_005465.7(AKT3):c.306C>A (p.Ile102=) rs528649886 0.00007
NM_005465.7(AKT3):c.820-10T>G rs370193515 0.00006
NM_005465.7(AKT3):c.840C>T (p.Asp280=) rs201347487 0.00006
NM_005465.7(AKT3):c.996A>G (p.Leu332=) rs371532988 0.00005
NM_005465.7(AKT3):c.1104A>G (p.Thr368=) rs774883413 0.00004
NM_005465.7(AKT3):c.820-18A>G rs750153115 0.00004
NM_005465.7(AKT3):c.906C>T (p.Thr302=) rs770248544 0.00003
NM_005465.7(AKT3):c.1050C>T (p.Asp350=) rs1026697335 0.00002
NM_005465.7(AKT3):c.1386T>C (p.Asn462=) rs778193336 0.00002
NM_005465.7(AKT3):c.47-18C>T rs186964075 0.00002
NM_005465.7(AKT3):c.564T>C (p.Asp188=) rs775503811 0.00002
NM_005465.7(AKT3):c.882A>G (p.Lys294=) rs766767139 0.00002
NM_005465.7(AKT3):c.1164-7C>T rs187627364 0.00001
NM_005465.7(AKT3):c.1275A>G (p.Gln425=) rs143949494 0.00001
NM_005465.7(AKT3):c.172+19T>C rs746689777 0.00001
NM_005465.7(AKT3):c.284+10T>C rs371954528 0.00001
NM_005465.7(AKT3):c.417T>C (p.His139=) rs1283519302 0.00001
NM_005465.7(AKT3):c.47-10C>T rs751741670 0.00001
NM_005465.7(AKT3):c.562-6T>C rs1277089927 0.00001
NM_005465.7(AKT3):c.726G>A (p.Val242=) rs781331863 0.00001
NM_005465.7(AKT3):c.729C>T (p.Phe243=) rs1340146435 0.00001
NM_005465.7(AKT3):c.1101A>C (p.Arg367=) rs2148466016
NM_005465.7(AKT3):c.1215C>T (p.Phe405=)
NM_005465.7(AKT3):c.1252-10C>G rs2148363624
NM_005465.7(AKT3):c.1252-20C>G
NM_005465.7(AKT3):c.1252-20_1252-19del
NM_005465.7(AKT3):c.1342C>A (p.Pro448Thr) rs2148363374
NM_005465.7(AKT3):c.1416C>T (p.Ser472=)
NM_005465.7(AKT3):c.172+13T>A
NM_005465.7(AKT3):c.195A>G (p.Glu65=)
NM_005465.7(AKT3):c.273T>C (p.Thr91=) rs1057522821
NM_005465.7(AKT3):c.345G>A (p.Glu115=)
NM_005465.7(AKT3):c.429+15C>T
NM_005465.7(AKT3):c.430-11G>T
NM_005465.7(AKT3):c.430-19T>C
NM_005465.7(AKT3):c.430-9del
NM_005465.7(AKT3):c.46+18C>G
NM_005465.7(AKT3):c.47-17G>A
NM_005465.7(AKT3):c.47-4G>A
NM_005465.7(AKT3):c.540G>A (p.Lys180=)
NM_005465.7(AKT3):c.562-17C>T
NM_005465.7(AKT3):c.627+7G>A
NM_005465.7(AKT3):c.720G>A (p.Glu240=) rs1204640048
NM_005465.7(AKT3):c.820-10T>A rs370193515
NM_005465.7(AKT3):c.820-12C>G rs1558618010
NM_005465.7(AKT3):c.933A>G (p.Glu311=)
NM_005465.7(AKT3):c.948+9C>A rs776361820
NM_005465.7(AKT3):c.948+9C>T
NM_005465.7(AKT3):c.949-18T>C

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