ClinVar Miner

List of variants in gene AGK reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_018238.4(AGK):c.976-250T>C rs34103037 0.02720
NM_018238.4(AGK):c.*320G>A rs3735282 0.01469
NM_018238.4(AGK):c.423+182G>A rs116153096 0.01301
NM_018238.4(AGK):c.141+267C>T rs116276788 0.01292
NM_018238.4(AGK):c.976-47T>G rs73171604 0.01268
NM_018238.4(AGK):c.298-106G>A rs114698745 0.01207
NM_018238.4(AGK):c.102-181_102-165del rs574151155 0.00933
NM_018238.4(AGK):c.518+35G>T rs115245729 0.00930
NM_018238.4(AGK):c.298-194C>T rs117068630 0.00813
NM_018238.4(AGK):c.976-167A>G rs1168156123 0.00530
NM_018238.4(AGK):c.*184C>T rs116500538 0.00466
NM_018238.4(AGK):c.877+179A>C rs7778493 0.00371
NM_018238.4(AGK):c.1132-272G>T rs6975566 0.00357
NM_018238.4(AGK):c.141+201C>T rs183937860 0.00235
NM_018238.4(AGK):c.297+18A>G rs138364626 0.00225
NM_018238.4(AGK):c.416C>G (p.Thr139Arg) rs144706178 0.00166
NM_018238.4(AGK):c.29A>G (p.Asn10Ser) rs35269563 0.00161
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.1131+11A>G rs202069684 0.00038
NM_018238.4(AGK):c.877+15G>A rs201052151 0.00029
NM_018238.4(AGK):c.-14-3T>C rs371437227 0.00009
NM_018238.4(AGK):c.519-5T>C rs755469922 0.00007
NM_018238.4(AGK):c.327C>T (p.Leu109=) rs148971840 0.00006
NM_018238.4(AGK):c.804C>T (p.Thr268=) rs543549513 0.00006
NM_018238.4(AGK):c.976-20A>G rs201192380 0.00006
NM_018238.4(AGK):c.-33G>A rs1214692572 0.00005
NM_018238.4(AGK):c.621C>T (p.Thr207=) rs140431258 0.00005
NM_018238.4(AGK):c.684G>A (p.Gly228=) rs150732826 0.00005
NM_018238.4(AGK):c.21G>A (p.Thr7=) rs773549163 0.00003
NM_018238.4(AGK):c.589-18A>G rs528143883 0.00003
NM_018238.4(AGK):c.589-20G>T rs751876434 0.00003
NM_018238.4(AGK):c.-36dup rs1268124826 0.00001
NM_018238.4(AGK):c.498C>T (p.Ala166=) rs748557845 0.00001
NM_018238.4(AGK):c.863C>T (p.Ala288Val) rs763068104 0.00001
NM_018238.4(AGK):c.880C>A (p.Leu294Ile) rs139547145 0.00001
NM_018238.4(AGK):c.1046+266G>C rs6950019
NM_018238.4(AGK):c.1052G>C (p.Arg351Pro) rs374861637
NM_018238.4(AGK):c.1132-139dup rs200654013
NM_018238.4(AGK):c.142-235_142-232del rs34562688
NM_018238.4(AGK):c.424-4C>A rs113085050
NM_018238.4(AGK):c.424-5C>G rs113599212
NM_018238.4(AGK):c.519-4_519-3del rs770005760
NM_018238.4(AGK):c.519-97TG[6] rs142576028
NM_018238.4(AGK):c.588+307del rs879346055
NM_018238.4(AGK):c.851C>T (p.Ala284Val) rs863223892
NM_018238.4(AGK):c.976-224dup rs111790655

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