ClinVar Miner

List of variants in gene combination EPAS1, LOC129933655 reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001430.5(EPAS1):c.-231C>G rs750848838 0.00012
NM_001430.5(EPAS1):c.-237C>G rs977976338 0.00012
NM_001430.5(EPAS1):c.-102C>G rs886056082 0.00006
NM_001430.5(EPAS1):c.26+8G>A rs750007571 0.00004
NM_001430.5(EPAS1):c.-200A>C rs886056080 0.00003
NM_001430.5(EPAS1):c.-92G>A rs957930899 0.00002
NM_001430.5(EPAS1):c.-86C>T rs886056083 0.00001
NM_001430.5(EPAS1):c.-111G>C rs530436826
NM_001430.5(EPAS1):c.-138G>T rs886056081

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