ClinVar Miner

List of variants in gene ETV6 reported as uncertain significance for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001987.5(ETV6):c.380G>A (p.Arg127Gln) rs140357643 0.00068
NM_001987.5(ETV6):c.632G>A (p.Arg211His) rs111871763 0.00004
NM_001987.5(ETV6):c.116G>A (p.Arg39Gln) rs144209028 0.00002
NM_001987.5(ETV6):c.1251C>G (p.Phe417Leu) rs1591750603
NM_001987.5(ETV6):c.1253G>T (p.Arg418Met)
NM_001987.5(ETV6):c.406C>G (p.Pro136Ala) rs1946587466
NM_001987.5(ETV6):c.41G>A (p.Arg14Gln)
NM_001987.5(ETV6):c.439A>T (p.Ile147Leu)
NM_001987.5(ETV6):c.446A>G (p.His149Arg)
NM_001987.5(ETV6):c.464-50_1009+50del rs1591735032
NM_001987.5(ETV6):c.527T>C (p.Ile176Thr)
NM_001987.5(ETV6):c.791G>A (p.Arg264His) rs150621299

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