ClinVar Miner

List of variants in gene AGK reported as likely benign for Sengers syndrome; Cataract 38

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Total variants: 112
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HGVS dbSNP gnomAD frequency
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.877+14C>T rs41275003 0.00042
NM_018238.4(AGK):c.1131+11A>G rs202069684 0.00038
NM_018238.4(AGK):c.727-9C>T rs199977261 0.00017
NM_018238.4(AGK):c.222-13C>T rs374601217 0.00013
NM_018238.4(AGK):c.26G>A (p.Arg9Gln) rs577821330 0.00013
NM_018238.4(AGK):c.852G>A (p.Ala284=) rs183816817 0.00013
NM_018238.4(AGK):c.1131+19G>A rs371220594 0.00009
NM_018238.4(AGK):c.221+9G>A rs200123164 0.00009
NM_018238.4(AGK):c.621C>T (p.Thr207=) rs140431258 0.00008
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.976-20A>G rs201192380 0.00006
NM_018238.4(AGK):c.684G>A (p.Gly228=) rs150732826 0.00005
NM_018238.4(AGK):c.954G>A (p.Arg318=) rs781710690 0.00005
NM_018238.4(AGK):c.101+7A>C rs373899577 0.00004
NM_018238.4(AGK):c.1047-12C>G rs200585777 0.00004
NM_018238.4(AGK):c.142-11T>C rs899737243 0.00004
NM_018238.4(AGK):c.1077C>T (p.His359=) rs573580414 0.00003
NM_018238.4(AGK):c.142-18T>G rs113134123 0.00003
NM_018238.4(AGK):c.142-4T>C rs763744712 0.00003
NM_018238.4(AGK):c.21G>A (p.Thr7=) rs773549163 0.00003
NM_018238.4(AGK):c.589-20G>T rs751876434 0.00003
NM_018238.4(AGK):c.174A>G (p.Ala58=) rs780164129 0.00002
NM_018238.4(AGK):c.237A>G (p.Leu79=) rs770857471 0.00002
NM_018238.4(AGK):c.267T>C (p.His89=) rs1015498834 0.00002
NM_018238.4(AGK):c.424-8C>G rs574444775 0.00002
NM_018238.4(AGK):c.42A>G (p.Lys14=) rs762737147 0.00002
NM_018238.4(AGK):c.63G>C (p.Leu21=) rs779484397 0.00002
NM_018238.4(AGK):c.726+18T>G rs767714921 0.00002
NM_018238.4(AGK):c.972G>A (p.Pro324=) rs564152492 0.00002
NM_018238.4(AGK):c.1047-7C>T rs1432488239 0.00001
NM_018238.4(AGK):c.1047-8G>A rs1396305653 0.00001
NM_018238.4(AGK):c.1197G>A (p.Leu399=) rs139412235 0.00001
NM_018238.4(AGK):c.142-14C>G rs1245059066 0.00001
NM_018238.4(AGK):c.142-8T>A rs758001507 0.00001
NM_018238.4(AGK):c.221+13G>A rs762733264 0.00001
NM_018238.4(AGK):c.222-20A>G rs755254666 0.00001
NM_018238.4(AGK):c.243A>G (p.Glu81=) rs745864268 0.00001
NM_018238.4(AGK):c.396T>C (p.Val132=) rs1308697507 0.00001
NM_018238.4(AGK):c.424-14C>T rs756958860 0.00001
NM_018238.4(AGK):c.498C>T (p.Ala166=) rs748557845 0.00001
NM_018238.4(AGK):c.573T>C (p.Asp191=) rs776709096 0.00001
NM_018238.4(AGK):c.726+9G>T rs763710874 0.00001
NM_018238.4(AGK):c.819T>C (p.Pro273=) rs2485465583 0.00001
NM_018238.4(AGK):c.878-17C>T rs1797296918 0.00001
NM_018238.4(AGK):c.101+13C>G rs1795191617
NM_018238.4(AGK):c.101+13C>T
NM_018238.4(AGK):c.101+4_101+7dup rs1172957285
NM_018238.4(AGK):c.1046+11T>C rs1797496976
NM_018238.4(AGK):c.1046+7G>T rs2485489685
NM_018238.4(AGK):c.1047-5C>T
NM_018238.4(AGK):c.1056G>A (p.Lys352=)
NM_018238.4(AGK):c.1065C>T (p.Asn355=)
NM_018238.4(AGK):c.1068C>T (p.Pro356=) rs2485497114
NM_018238.4(AGK):c.1089G>A (p.Thr363=) rs747085485
NM_018238.4(AGK):c.1098C>A (p.Leu366=)
NM_018238.4(AGK):c.1098C>T (p.Leu366=) rs369042931
NM_018238.4(AGK):c.1122T>C (p.Leu374=)
NM_018238.4(AGK):c.1132-13C>A rs1017289236
NM_018238.4(AGK):c.1140G>A (p.Gly380=) rs1201793604
NM_018238.4(AGK):c.1176G>C (p.Ala392=) rs745980822
NM_018238.4(AGK):c.1194A>G (p.Lys398=)
NM_018238.4(AGK):c.1236G>A (p.Lys412=) rs2485501725
NM_018238.4(AGK):c.1260C>T (p.Pro420=) rs764881954
NM_018238.4(AGK):c.1263C>A (p.Thr421=) rs1166298575
NM_018238.4(AGK):c.1268G>A (p.Ter423=)
NM_018238.4(AGK):c.141+16del rs2485521559
NM_018238.4(AGK):c.142-15T>G
NM_018238.4(AGK):c.156A>G (p.Gln52=)
NM_018238.4(AGK):c.222-5A>G
NM_018238.4(AGK):c.270A>G (p.Leu90=)
NM_018238.4(AGK):c.297+12T>C
NM_018238.4(AGK):c.298-18G>A rs368433813
NM_018238.4(AGK):c.298-18G>C rs368433813
NM_018238.4(AGK):c.298-18G>T rs368433813
NM_018238.4(AGK):c.354G>A (p.Val118=)
NM_018238.4(AGK):c.357C>T (p.Ile119=)
NM_018238.4(AGK):c.391-13A>G rs752545115
NM_018238.4(AGK):c.391-6T>C rs2485387197
NM_018238.4(AGK):c.411A>T (p.Arg137=) rs1587129356
NM_018238.4(AGK):c.423+19T>C rs763406407
NM_018238.4(AGK):c.424-4C>T rs113085050
NM_018238.4(AGK):c.424-5C>A rs113599212
NM_018238.4(AGK):c.424-5C>G rs113599212
NM_018238.4(AGK):c.424-6C>T rs370409778
NM_018238.4(AGK):c.462G>A (p.Leu154=) rs1183227165
NM_018238.4(AGK):c.48A>G (p.Thr16=)
NM_018238.4(AGK):c.492C>G (p.Leu164=) rs1485021759
NM_018238.4(AGK):c.495T>C (p.Phe165=) rs2485391547
NM_018238.4(AGK):c.519-19A>G rs2485410276
NM_018238.4(AGK):c.519-4_519-3del rs770005760
NM_018238.4(AGK):c.579G>A (p.Leu193=) rs745967065
NM_018238.4(AGK):c.621C>G (p.Thr207=) rs140431258
NM_018238.4(AGK):c.654C>A (p.Gly218=) rs144977618
NM_018238.4(AGK):c.654C>T (p.Gly218=) rs144977618
NM_018238.4(AGK):c.668+14A>G
NM_018238.4(AGK):c.668+9T>C rs2485444211
NM_018238.4(AGK):c.669-16C>A rs1345612978
NM_018238.4(AGK):c.717C>T (p.Ser239=) rs1415750220
NM_018238.4(AGK):c.727-17T>C
NM_018238.4(AGK):c.823T>C (p.Leu275=)
NM_018238.4(AGK):c.877+13G>A rs1797286530
NM_018238.4(AGK):c.877+19A>G rs1227381092
NM_018238.4(AGK):c.877+20A>C
NM_018238.4(AGK):c.878-15A>T rs2485467298
NM_018238.4(AGK):c.878-6C>T rs2117014175
NM_018238.4(AGK):c.900G>A (p.Pro300=) rs2485467430
NM_018238.4(AGK):c.924G>A (p.Leu308=) rs2485467536
NM_018238.4(AGK):c.963G>A (p.Gln321=) rs746403177
NM_018238.4(AGK):c.976-9C>T rs746375297

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