ClinVar Miner

List of variants in gene combination ELP4, PAX6 reported as benign 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: 12
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HGVS dbSNP
NM_019040.5(ELP4):c.*2114C>G rs16922475
NM_019040.5(ELP4):c.*2452C>T rs3026401
NM_019040.5(ELP4):c.*2673_*2674del rs141022497
NM_019040.5(ELP4):c.*3164_*3165insAAAA rs34919147
NM_019040.5(ELP4):c.*3208C>T rs608293
NM_019040.5(ELP4):c.*3514_*3517dup rs397795797
NM_019040.5(ELP4):c.*3703G>A rs3026398
NM_019040.5(ELP4):c.*3998C>T rs662702
NM_019040.5(ELP4):c.*4105C>T rs73477656
NM_019040.5(ELP4):c.*4250C>T rs12421026
NM_019040.5(ELP4):c.*5226T>A rs1506
NM_019040.5(ELP4):c.*5347T>C rs117590302

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