ClinVar Miner

List of variants reported as likely benign for Sengers syndrome; Cataract 38 by Invitae

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Total variants: 89
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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 0.00041
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.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.621C>T (p.Thr207=) rs140431258 0.00005
NM_018238.4(AGK):c.684G>A (p.Gly228=) rs150732826 0.00005
NM_018238.4(AGK):c.101+7A>C rs373899577 0.00004
NM_018238.4(AGK):c.142-11T>C rs899737243 0.00004
NM_018238.4(AGK):c.221+9G>A rs200123164 0.00003
NM_018238.4(AGK):c.589-20G>T rs751876434 0.00003
NM_018238.4(AGK):c.243A>G (p.Glu81=) rs745864268 0.00002
NM_018238.4(AGK):c.63G>C (p.Leu21=) rs779484397 0.00002
NM_018238.4(AGK):c.1197G>A (p.Leu399=) rs139412235 0.00001
NM_018238.4(AGK):c.498C>T (p.Ala166=) rs748557845 0.00001
NM_018238.4(AGK):c.101+13C>G
NM_018238.4(AGK):c.101+4_101+7dup
NM_018238.4(AGK):c.1046+11T>C
NM_018238.4(AGK):c.1046+7G>T
NM_018238.4(AGK):c.1047-12C>G
NM_018238.4(AGK):c.1047-7C>T
NM_018238.4(AGK):c.1047-8G>A
NM_018238.4(AGK):c.1068C>T (p.Pro356=)
NM_018238.4(AGK):c.1077C>T (p.His359=)
NM_018238.4(AGK):c.1089G>A (p.Thr363=)
NM_018238.4(AGK):c.1131+19G>A
NM_018238.4(AGK):c.1132-13C>A
NM_018238.4(AGK):c.1140G>A (p.Gly380=)
NM_018238.4(AGK):c.1176G>C (p.Ala392=)
NM_018238.4(AGK):c.1236G>A (p.Lys412=)
NM_018238.4(AGK):c.1260C>T (p.Pro420=)
NM_018238.4(AGK):c.1263C>A (p.Thr421=) rs1166298575
NM_018238.4(AGK):c.141+16del
NM_018238.4(AGK):c.142-14C>G
NM_018238.4(AGK):c.142-18T>G
NM_018238.4(AGK):c.142-4T>C
NM_018238.4(AGK):c.142-8T>A
NM_018238.4(AGK):c.174A>G (p.Ala58=)
NM_018238.4(AGK):c.221+13G>A
NM_018238.4(AGK):c.222-20A>G
NM_018238.4(AGK):c.237A>G (p.Leu79=)
NM_018238.4(AGK):c.267T>C (p.His89=)
NM_018238.4(AGK):c.298-18G>A
NM_018238.4(AGK):c.298-18G>C
NM_018238.4(AGK):c.298-18G>T
NM_018238.4(AGK):c.391-13A>G rs752545115
NM_018238.4(AGK):c.391-6T>C
NM_018238.4(AGK):c.396T>C (p.Val132=)
NM_018238.4(AGK):c.411A>T (p.Arg137=)
NM_018238.4(AGK):c.423+19T>C
NM_018238.4(AGK):c.424-14C>T
NM_018238.4(AGK):c.424-4C>T
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
NM_018238.4(AGK):c.424-8C>G
NM_018238.4(AGK):c.462G>A (p.Leu154=)
NM_018238.4(AGK):c.492C>G (p.Leu164=) rs1485021759
NM_018238.4(AGK):c.495T>C (p.Phe165=)
NM_018238.4(AGK):c.519-19A>G
NM_018238.4(AGK):c.519-4_519-3del rs770005760
NM_018238.4(AGK):c.573T>C (p.Asp191=)
NM_018238.4(AGK):c.579G>A (p.Leu193=) rs745967065
NM_018238.4(AGK):c.621C>G (p.Thr207=)
NM_018238.4(AGK):c.654C>A (p.Gly218=)
NM_018238.4(AGK):c.654C>T (p.Gly218=)
NM_018238.4(AGK):c.668+9T>C
NM_018238.4(AGK):c.669-16C>A
NM_018238.4(AGK):c.717C>T (p.Ser239=)
NM_018238.4(AGK):c.726+18T>G
NM_018238.4(AGK):c.726+9G>T
NM_018238.4(AGK):c.819T>C (p.Pro273=)
NM_018238.4(AGK):c.877+13G>A
NM_018238.4(AGK):c.877+19A>G
NM_018238.4(AGK):c.878-15A>T
NM_018238.4(AGK):c.878-17C>T
NM_018238.4(AGK):c.878-6C>T rs2117014175
NM_018238.4(AGK):c.900G>A (p.Pro300=)
NM_018238.4(AGK):c.924G>A (p.Leu308=)
NM_018238.4(AGK):c.954G>A (p.Arg318=)
NM_018238.4(AGK):c.963G>A (p.Gln321=) rs746403177
NM_018238.4(AGK):c.972G>A (p.Pro324=)
NM_018238.4(AGK):c.976-9C>T rs746375297

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