ClinVar Miner

List of variants in gene PAX4 studied for Maturity onset diabetes mellitus in young

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001366110.1(PAX4):c.*521C>T rs712699 0.74699
NM_001366110.1(PAX4):c.986A>C (p.His329Pro) rs712701 0.74681
NM_001366110.1(PAX4):c.*211A>G rs712700 0.74585
NM_001366110.1(PAX4):c.*477C>T rs327520 0.29767
NM_001366110.1(PAX4):c.*402T>C rs327519 0.07655
NM_001366110.1(PAX4):c.543A>G (p.Gln181=) rs327517 0.05634
NM_001366110.1(PAX4):c.474C>T (p.Gly158=) rs77039439 0.04703
NM_001366110.1(PAX4):c.*492G>A rs405576 0.03297
NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp) rs2233578 0.02654
NM_001366110.1(PAX4):c.*33A>C rs150578361 0.01119
NM_001366110.1(PAX4):c.646-7C>T rs11977988 0.00498
NM_001366110.1(PAX4):c.*190C>T rs2233585 0.00426
NM_001366110.1(PAX4):c.*287C>T rs12669223 0.00402
NM_001366110.1(PAX4):c.599G>A (p.Arg200His) rs2233580 0.00220
NM_001366110.1(PAX4):c.456C>T (p.Val152=) rs61749955 0.00216
NM_001366110.1(PAX4):c.14-188del rs533462973 0.00204
NM_001366110.1(PAX4):c.313C>T (p.Arg105Cys) rs144792551 0.00074
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln) rs115887120 0.00051
NM_001366110.1(PAX4):c.14-182G>A rs886061971 0.00025
NM_001366110.1(PAX4):c.260G>A (p.Arg87Gln) rs115923648 0.00022
NM_001366110.1(PAX4):c.1014C>T (p.Ala338=) rs201607054 0.00013
NM_001366110.1(PAX4):c.385C>T (p.Arg129Trp) rs114202595 0.00013
NM_001366110.1(PAX4):c.571C>T (p.Arg191Cys) rs114315130 0.00013
NM_001366110.1(PAX4):c.1024C>T (p.Pro342Ser) rs143084654 0.00010
NM_001366110.1(PAX4):c.14-51G>A rs878919319 0.00008
NM_001366110.1(PAX4):c.572G>A (p.Arg191His) rs145284016 0.00006
NM_001366110.1(PAX4):c.14-101C>T rs886061970 0.00003
NM_001366110.1(PAX4):c.14-176C>A rs754931916 0.00003
NM_001366110.1(PAX4):c.515G>A (p.Arg172Gln) rs587780414 0.00001
NM_001366110.1(PAX4):c.*469TATG[3] rs66998513
NM_001366110.1(PAX4):c.*474_*477dup rs1554403669
NM_001366110.1(PAX4):c.*477_*478insATGT rs200757052
NM_001366110.1(PAX4):c.*488GC[4] rs61297182
NM_001366110.1(PAX4):c.*492_*497del rs886061966
NM_001366110.1(PAX4):c.*493_*494insGCAC rs375106423
NM_001366110.1(PAX4):c.*494AC[11] rs36159526
NM_001366110.1(PAX4):c.*494AC[13] rs36159526
NM_001366110.1(PAX4):c.*494AC[14] rs36159526
NM_001366110.1(PAX4):c.*514_*521delinsTGAT rs886061965
NM_001366110.1(PAX4):c.*518_*521delinsACACTGAT rs886061964
NM_001366110.1(PAX4):c.*667AT[1] rs59241875
NM_001366110.1(PAX4):c.*66C>T rs886061967
NM_001366110.1(PAX4):c.*722T>C rs759186282
NM_001366110.1(PAX4):c.13+175G>C rs327516
NM_001366110.1(PAX4):c.403C>G (p.Gln135Glu) rs886061969
NM_001366110.1(PAX4):c.598C>A (p.Arg200Ser) rs3824004
NM_001366110.1(PAX4):c.772-13dup rs35434068
NM_001366110.1(PAX4):c.772-3del rs35434068
NM_001366110.1(PAX4):c.904C>A (p.Pro302Thr) rs886061968

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