ClinVar Miner

List of variants in gene PDX1 studied for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 61
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000209.4(PDX1):c.162G>A (p.Leu54=) rs28509441 0.01287
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) rs199644078 0.00993
NM_000209.4(PDX1):c.-18C>T rs193922351 0.00540
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00320
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu) rs193922358 0.00115
NM_000209.4(PDX1):c.543C>T (p.Val181=) rs75498935 0.00097
NM_000209.4(PDX1):c.165C>A (p.Gly55=) rs530567443 0.00078
NM_000209.4(PDX1):c.6C>T (p.Asn2=) rs146936598 0.00078
NM_000209.4(PDX1):c.211C>A (p.Pro71Thr) rs564129447 0.00041
NM_000209.4(PDX1):c.336C>G (p.Pro112=) rs149275902 0.00038
NM_000209.4(PDX1):c.210G>T (p.Val70=) rs748725637 0.00016
NM_000209.4(PDX1):c.732C>G (p.Pro244=) rs777512281 0.00016
NM_000209.4(PDX1):c.164G>A (p.Gly55Asp) rs753249965 0.00014
NM_000209.4(PDX1):c.296C>A (p.Pro99His) rs764870332 0.00013
NM_000209.4(PDX1):c.841G>C (p.Glu281Gln) rs1357043267 0.00012
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg) rs137852785 0.00011
NM_000209.4(PDX1):c.28G>A (p.Ala10Thr) rs936474667 0.00010
NM_000209.4(PDX1):c.498A>G (p.Leu166=) rs780117858 0.00007
NM_000209.4(PDX1):c.719C>G (p.Pro240Arg) rs753881947 0.00003
NM_000209.4(PDX1):c.820G>T (p.Val274Phe) rs930365498 0.00003
NM_000209.4(PDX1):c.8G>C (p.Gly3Ala) rs1380564366 0.00002
NM_000209.4(PDX1):c.208G>A (p.Val70Met) rs1234749777 0.00001
NM_000209.4(PDX1):c.216C>T (p.Pro72=) rs193922353 0.00001
NM_000209.4(PDX1):c.651del (p.Gly218fs) rs776610329 0.00001
NM_000209.4(PDX1):c.773A>G (p.Glu258Gly) rs193922360 0.00001
NM_000209.4(PDX1):c.98C>A (p.Pro33His) rs767363575 0.00001
NM_000209.4(PDX1):c.-50CTCCCGG[5] rs193922352
NM_000209.4(PDX1):c.107T>G (p.Leu36Arg) rs936861677
NM_000209.4(PDX1):c.127_128insGCCG (p.Pro43fs) rs1957772748
NM_000209.4(PDX1):c.128CGC[6] (p.Pro47_His48insPro)
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000209.4(PDX1):c.190G>T (p.Asp64Tyr)
NM_000209.4(PDX1):c.217del (p.Leu73fs)
NM_000209.4(PDX1):c.231C>T (p.Pro77=)
NM_000209.4(PDX1):c.234G>T (p.Ala78=)
NM_000209.4(PDX1):c.258C>T (p.Leu86=)
NM_000209.4(PDX1):c.282C>G (p.His94Gln) rs2137502663
NM_000209.4(PDX1):c.288C>G (p.Pro96=)
NM_000209.4(PDX1):c.312C>T (p.Ala104=) rs535722487
NM_000209.4(PDX1):c.318G>T (p.Pro106=) rs193922354
NM_000209.4(PDX1):c.363G>T (p.Trp121Cys)
NM_000209.4(PDX1):c.442C>G (p.Arg148Gly) rs193922355
NM_000209.4(PDX1):c.455C>T (p.Ala152Val) rs1355562073
NM_000209.4(PDX1):c.502A>C (p.Asn168His) rs1555241857
NM_000209.4(PDX1):c.533A>G (p.Glu178Gly) rs387906777
NM_000209.4(PDX1):c.569T>C (p.Ile190Thr)
NM_000209.4(PDX1):c.571A>C (p.Lys191Gln) rs193922356
NM_000209.4(PDX1):c.593G>T (p.Arg198Leu)
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000209.4(PDX1):c.671_672dup (p.Gln225fs)
NM_000209.4(PDX1):c.677A>C (p.Asp226Ala)
NM_000209.4(PDX1):c.693C>G (p.Ser231=)
NM_000209.4(PDX1):c.708G>C (p.Leu236=)
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) rs193922357
NM_000209.4(PDX1):c.728C>G (p.Pro243Arg) rs1444351717
NM_000209.4(PDX1):c.735dup (p.Gly246fs)
NM_000209.4(PDX1):c.769C>T (p.Arg257Ter) rs1236618998
NM_000209.4(PDX1):c.816C>T (p.Ser272=)
NM_000209.4(PDX1):c.825G>C (p.Ala275=)
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) rs192902098
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala) rs192902098

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.