ClinVar Miner

List of variants in gene AKT3 studied for non-syndromic polydactyly

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 108
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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 0.00141
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.1163+17G>A rs367951410 0.00034
NM_005465.7(AKT3):c.1398G>A (p.Pro466=) rs150573714 0.00015
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.1202G>A (p.Arg401Lys) rs771494754 0.00005
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.16A>G (p.Ile6Val) rs750279631 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.1163+16C>T rs781443210 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.1044C>T (p.Asn348=) rs199771220 0.00001
NM_005465.7(AKT3):c.1164-7C>T rs187627364 0.00001
NM_005465.7(AKT3):c.1241A>G (p.Tyr414Cys) rs1048970120 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.409A>G (p.Thr137Ala) rs1351256745 0.00001
NM_005465.7(AKT3):c.410C>T (p.Thr137Ile) rs202064755 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.1006A>G (p.Met336Val)
NM_005465.7(AKT3):c.1101A>C (p.Arg367=) rs2148466016
NM_005465.7(AKT3):c.1215C>T (p.Phe405=)
NM_005465.7(AKT3):c.1251+15T>C
NM_005465.7(AKT3):c.1251+5G>T rs780490457
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.1258C>T (p.Pro420Ser)
NM_005465.7(AKT3):c.1271C>T (p.Pro424Leu)
NM_005465.7(AKT3):c.1276G>C (p.Val426Leu) rs868556430
NM_005465.7(AKT3):c.1330A>G (p.Ile444Val) rs1574509510
NM_005465.7(AKT3):c.1342C>A (p.Pro448Thr) rs2148363374
NM_005465.7(AKT3):c.136G>A (p.Asp46Asn)
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_005465.7(AKT3):c.1397C>T (p.Pro466Leu) rs1669592664
NM_005465.7(AKT3):c.1416C>T (p.Ser472=)
NM_005465.7(AKT3):c.145T>C (p.Tyr49His)
NM_005465.7(AKT3):c.172+13T>A
NM_005465.7(AKT3):c.173-23_173-20del rs773557899
NM_005465.7(AKT3):c.195A>G (p.Glu65=)
NM_005465.7(AKT3):c.224G>A (p.Arg75Lys) rs1553428545
NM_005465.7(AKT3):c.230T>A (p.Leu77His) rs2147921662
NM_005465.7(AKT3):c.237G>C (p.Trp79Cys) rs2147921624
NM_005465.7(AKT3):c.238A>T (p.Thr80Ser) rs1682656371
NM_005465.7(AKT3):c.273T>C (p.Thr91=) rs1057522821
NM_005465.7(AKT3):c.324A>T (p.Arg108Ser)
NM_005465.7(AKT3):c.345G>A (p.Glu115=)
NM_005465.7(AKT3):c.359G>A (p.Ser120Asn)
NM_005465.7(AKT3):c.364A>C (p.Thr122Pro)
NM_005465.7(AKT3):c.365C>G (p.Thr122Ser)
NM_005465.7(AKT3):c.382A>G (p.Ile128Val)
NM_005465.7(AKT3):c.404C>T (p.Ala135Val)
NM_005465.7(AKT3):c.429+15C>T
NM_005465.7(AKT3):c.430-11G>T
NM_005465.7(AKT3):c.430-17dup rs780927904
NM_005465.7(AKT3):c.430-19T>C
NM_005465.7(AKT3):c.430-9del
NM_005465.7(AKT3):c.46+11C>T
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.47-52492A>G rs1688596080
NM_005465.7(AKT3):c.49G>A (p.Glu17Lys) rs397514606
NM_005465.7(AKT3):c.526A>G (p.Met176Val)
NM_005465.7(AKT3):c.538A>G (p.Lys180Glu) rs2147812145
NM_005465.7(AKT3):c.540G>A (p.Lys180=)
NM_005465.7(AKT3):c.548T>A (p.Val183Asp) rs886041100
NM_005465.7(AKT3):c.548T>C (p.Val183Ala)
NM_005465.7(AKT3):c.562-17C>T
NM_005465.7(AKT3):c.627+7G>A
NM_005465.7(AKT3):c.628-9dup
NM_005465.7(AKT3):c.658C>T (p.Arg220Cys)
NM_005465.7(AKT3):c.682G>A (p.Val228Ile) rs1678068695
NM_005465.7(AKT3):c.685A>C (p.Asn229His) rs530590989
NM_005465.7(AKT3):c.686A>G (p.Asn229Ser) rs397514605
NM_005465.7(AKT3):c.720G>A (p.Glu240=) rs1204640048
NM_005465.7(AKT3):c.752A>G (p.Tyr251Cys) rs766197531
NM_005465.7(AKT3):c.803T>C (p.Val268Ala) rs1674673024
NM_005465.7(AKT3):c.820-10T>A rs370193515
NM_005465.7(AKT3):c.820-12C>G rs1558618010
NM_005465.7(AKT3):c.887G>A (p.Gly296Glu)
NM_005465.7(AKT3):c.933A>G (p.Glu311=)
NM_005465.7(AKT3):c.948+3A>G rs2148488034
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
NM_005465.7(AKT3):c.963T>G (p.Asn321Lys) rs1673171921
NM_005465.7(AKT3):c.964G>T (p.Asp322Tyr) rs1064795602
NM_005465.7(AKT3):c.998G>A (p.Gly333Glu)

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