ClinVar Miner

List of variants in gene PAX4 reported as likely benign for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
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.636C>T (p.Asp212=) rs141407429 0.00131
NM_001366110.1(PAX4):c.69T>C (p.Pro23=) rs116124047 0.00085
NM_001366110.1(PAX4):c.144+16C>T rs138902071 0.00080
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.762C>T (p.Ile254=) rs147670794 0.00024
NM_001366110.1(PAX4):c.563-11G>A rs376403180 0.00015
NM_001366110.1(PAX4):c.345G>A (p.Gln115=) rs115157546 0.00014
NM_001366110.1(PAX4):c.571C>T (p.Arg191Cys) rs114315130 0.00013
NM_001366110.1(PAX4):c.498C>T (p.His166=) rs143156250 0.00009
NM_001366110.1(PAX4):c.*488GC[4] rs61297182
NM_001366110.1(PAX4):c.*493_*494insGCAC rs375106423
NM_001366110.1(PAX4):c.*667AT[1] rs59241875
NM_001366110.1(PAX4):c.116G>T (p.Arg39Leu) rs115887120
NM_001366110.1(PAX4):c.211G>T (p.Gly71Cys) rs112061448
NM_001366110.1(PAX4):c.598C>A (p.Arg200Ser) rs3824004

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