ClinVar Miner

List of variants reported as uncertain significance for Sengers syndrome; Cataract 38 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018238.4(AGK):c.803C>A (p.Thr268Asn) rs142779190 0.00115
NM_018238.4(AGK):c.743A>C (p.His248Pro) rs150160397 0.00051
NM_018238.4(AGK):c.742C>T (p.His248Tyr) rs78219214 0.00021
NM_018238.4(AGK):c.764C>T (p.Thr255Met) rs112625649 0.00015
NM_018238.4(AGK):c.1052G>A (p.Arg351Gln) rs374861637 0.00010
NM_018238.4(AGK):c.445A>G (p.Ile149Val) rs113986866 0.00009
NM_018238.4(AGK):c.410G>A (p.Arg137Gln) rs770394329 0.00006
NM_018238.4(AGK):c.655G>A (p.Val219Ile) rs201584377 0.00005
NM_018238.4(AGK):c.203A>G (p.Asn68Ser) rs565745559 0.00004
NM_018238.4(AGK):c.55C>T (p.Leu19Phe) rs367844999 0.00004
NM_018238.4(AGK):c.257C>G (p.Pro86Arg) rs762680550 0.00003
NM_018238.4(AGK):c.401G>A (p.Gly134Asp) rs568195338 0.00002
NM_018238.4(AGK):c.562G>A (p.Val188Ile) rs747244579 0.00002
NM_018238.4(AGK):c.297+3A>G rs972525482 0.00001
NM_018238.4(AGK):c.511A>G (p.Lys171Glu) rs771035261 0.00001
NM_018238.4(AGK):c.880C>A (p.Leu294Ile) rs139547145 0.00001
NM_018238.4(AGK):c.881T>C (p.Leu294Pro) rs863223893 0.00001
NC_000007.13:g.(?_141255267)_(141352724_?)dup
NM_018238.4(AGK):c.1039_1044del (p.Thr347_Ile348del) rs758017978
NM_018238.4(AGK):c.1042A>G (p.Ile348Val)
NM_018238.4(AGK):c.1045G>C (p.Gly349Arg)
NM_018238.4(AGK):c.1048A>C (p.Ser350Arg)
NM_018238.4(AGK):c.1078G>A (p.Val360Met)
NM_018238.4(AGK):c.1079T>G (p.Val360Gly) rs748320721
NM_018238.4(AGK):c.1127C>T (p.Pro376Leu)
NM_018238.4(AGK):c.1132-10_1132-9del
NM_018238.4(AGK):c.1133G>A (p.Gly378Glu)
NM_018238.4(AGK):c.1154T>C (p.Ile385Thr)
NM_018238.4(AGK):c.1175C>T (p.Ala392Val)
NM_018238.4(AGK):c.1269A>G (p.Ter423Trp)
NM_018238.4(AGK):c.145T>G (p.Phe49Val)
NM_018238.4(AGK):c.173C>T (p.Ala58Val)
NM_018238.4(AGK):c.190A>G (p.Thr64Ala)
NM_018238.4(AGK):c.212C>T (p.Ala71Val)
NM_018238.4(AGK):c.222-3C>G
NM_018238.4(AGK):c.241G>A (p.Glu81Lys)
NM_018238.4(AGK):c.257C>T (p.Pro86Leu)
NM_018238.4(AGK):c.26G>C (p.Arg9Pro)
NM_018238.4(AGK):c.287C>T (p.Thr96Ile)
NM_018238.4(AGK):c.289A>G (p.Ile97Val)
NM_018238.4(AGK):c.331G>A (p.Glu111Lys)
NM_018238.4(AGK):c.331G>C (p.Glu111Gln) rs145805257
NM_018238.4(AGK):c.343A>C (p.Asn115His)
NM_018238.4(AGK):c.352G>A (p.Val118Met)
NM_018238.4(AGK):c.391-9C>G
NM_018238.4(AGK):c.420T>G (p.Asp140Glu)
NM_018238.4(AGK):c.424-3C>A
NM_018238.4(AGK):c.424-3C>T
NM_018238.4(AGK):c.424-6C>G
NM_018238.4(AGK):c.446T>C (p.Ile149Thr)
NM_018238.4(AGK):c.472A>G (p.Ser158Gly) rs888790526
NM_018238.4(AGK):c.499G>A (p.Glu167Lys)
NM_018238.4(AGK):c.542C>A (p.Ala181Asp)
NM_018238.4(AGK):c.544A>C (p.Ile182Leu) rs200104400
NM_018238.4(AGK):c.590G>A (p.Gly197Asp)
NM_018238.4(AGK):c.615A>G (p.Ala205=)
NM_018238.4(AGK):c.622G>A (p.Gly208Ser)
NM_018238.4(AGK):c.670T>C (p.Tyr224His)
NM_018238.4(AGK):c.671A>G (p.Tyr224Cys) rs1057521780
NM_018238.4(AGK):c.776A>G (p.Glu259Gly)
NM_018238.4(AGK):c.785C>T (p.Pro262Leu)
NM_018238.4(AGK):c.788A>G (p.Asn263Ser)
NM_018238.4(AGK):c.805C>A (p.Pro269Thr) rs773675584
NM_018238.4(AGK):c.80A>C (p.His27Pro)
NM_018238.4(AGK):c.80A>G (p.His27Arg)
NM_018238.4(AGK):c.874G>A (p.Asp292Asn)
NM_018238.4(AGK):c.899C>T (p.Pro300Leu)
NM_018238.4(AGK):c.901G>A (p.Glu301Lys)
NM_018238.4(AGK):c.971C>T (p.Pro324Leu)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.