ClinVar Miner

List of variants in gene ELP4, PAX6 studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 69
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 11p13(chr11:31541617-31813509)
NM_019040.5(ELP4):c.*1302T>C rs146579778
NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG rs886048180
NM_019040.5(ELP4):c.*1714C>G rs180780893
NM_019040.5(ELP4):c.*1783T>G rs140971065
NM_019040.5(ELP4):c.*1811A>C rs185968715
NM_019040.5(ELP4):c.*1877A>G rs745626044
NM_019040.5(ELP4):c.*2040G>C rs183115097
NM_019040.5(ELP4):c.*2049A>G rs886048181
NM_019040.5(ELP4):c.*2114C>G rs16922475
NM_019040.5(ELP4):c.*2282G>A rs886048182
NM_019040.5(ELP4):c.*2334T>G rs886048183
NM_019040.5(ELP4):c.*2407C>A rs886048184
NM_019040.5(ELP4):c.*2452C>T rs3026401
NM_019040.5(ELP4):c.*2502G>A rs886048185
NM_019040.5(ELP4):c.*2525C>A rs183433948
NM_019040.5(ELP4):c.*2664G>A rs567720234
NM_019040.5(ELP4):c.*2673_*2674del rs141022497
NM_019040.5(ELP4):c.*2710_*2711CA[2] rs886048186
NM_019040.5(ELP4):c.*2740G>A rs149777109
NM_019040.5(ELP4):c.*3092T>C rs371438311
NM_019040.5(ELP4):c.*3164_*3165insAAAA rs34919147
NM_019040.5(ELP4):c.*3208C>T rs608293
NM_019040.5(ELP4):c.*3242G>A rs187705792
NM_019040.5(ELP4):c.*3383C>T rs541022955
NM_019040.5(ELP4):c.*3425C>T rs3026399
NM_019040.5(ELP4):c.*3433G>T rs192709453
NM_019040.5(ELP4):c.*3504T>C rs886048187
NM_019040.5(ELP4):c.*3509A>G rs542906080
NM_019040.5(ELP4):c.*3514_*3517dup rs397795797
NM_019040.5(ELP4):c.*3523del rs886048188
NM_019040.5(ELP4):c.*3528A>G rs143185259
NM_019040.5(ELP4):c.*3703G>A rs3026398
NM_019040.5(ELP4):c.*3703_*3705del rs886048189
NM_019040.5(ELP4):c.*3713A>T rs138881442
NM_019040.5(ELP4):c.*3859G>A rs886048190
NM_019040.5(ELP4):c.*3904G>A rs3026397
NM_019040.5(ELP4):c.*3920C>T rs886048191
NM_019040.5(ELP4):c.*3978T>C rs886048192
NM_019040.5(ELP4):c.*3994C>A rs79739975
NM_019040.5(ELP4):c.*3998C>T rs662702
NM_019040.5(ELP4):c.*4017A>G rs886048193
NM_019040.5(ELP4):c.*4023C>A rs886048194
NM_019040.5(ELP4):c.*4025C>G rs886048195
NM_019040.5(ELP4):c.*4105C>T rs73477656
NM_019040.5(ELP4):c.*4172A>C rs73477658
NM_019040.5(ELP4):c.*4250C>T rs12421026
NM_019040.5(ELP4):c.*4251G>A rs3026396
NM_019040.5(ELP4):c.*4806T>A rs189545730
NM_019040.5(ELP4):c.*4889G>A rs886048196
NM_019040.5(ELP4):c.*4932G>A rs181818313
NM_019040.5(ELP4):c.*5016T>G rs776894983
NM_019040.5(ELP4):c.*5123T>A rs576321279
NM_019040.5(ELP4):c.*5226T>A rs1506
NM_019040.5(ELP4):c.*5347T>C rs117590302
NM_019040.5(ELP4):c.*5357A>G rs886048197
NM_019040.5(ELP4):c.*5471T>C rs886048198
NM_019040.5(ELP4):c.*5519C>T rs530259403
NM_019040.5(ELP4):c.*5569G>A rs530931929
NM_019040.5(ELP4):c.*5993G>A rs55756603
NM_019040.5(ELP4):c.*6053T>A rs774473337
NM_019040.5(ELP4):c.*6054A>T rs774392481
NM_019040.5(ELP4):c.*6067del rs200391530
NM_019040.5(ELP4):c.*6075A>G rs766518284
NM_019040.5(ELP4):c.*6184A>G rs753595935
NM_019040.5(ELP4):c.*6203C>T rs886048199
NM_019040.5(ELP4):c.*6227dup rs886048200
NM_019040.5(ELP4):c.*6303C>G rs886048201
NM_019040.5(ELP4):c.*6411T>A rs121907922

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