ClinVar Miner

List of variants in gene combination ELP4, PAX6 reported as likely benign for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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NM_019040.5(ELP4):c.*1302T>C rs146579778
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.*2040G>C rs183115097
NM_019040.5(ELP4):c.*2525C>A rs183433948
NM_019040.5(ELP4):c.*2664G>A rs567720234
NM_019040.5(ELP4):c.*2740G>A rs149777109
NM_019040.5(ELP4):c.*3092T>C rs371438311
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.*3509A>G rs542906080
NM_019040.5(ELP4):c.*3713A>T rs138881442
NM_019040.5(ELP4):c.*3904G>A rs3026397
NM_019040.5(ELP4):c.*3994C>A rs79739975
NM_019040.5(ELP4):c.*4172A>C rs73477658
NM_019040.5(ELP4):c.*4251G>A rs3026396
NM_019040.5(ELP4):c.*4806T>A rs189545730
NM_019040.5(ELP4):c.*4932G>A rs181818313
NM_019040.5(ELP4):c.*5123T>A rs576321279
NM_019040.5(ELP4):c.*5569G>A rs530931929
NM_019040.5(ELP4):c.*5993G>A rs55756603

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