ClinVar Miner

List of variants in gene combination ETV6, LOC126861452 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: 7
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HGVS dbSNP gnomAD frequency
NM_001987.5(ETV6):c.1152+5A>G rs201196326 0.00088
NM_001987.5(ETV6):c.1034T>G (p.Val345Gly) rs2136595350
NM_001987.5(ETV6):c.1043T>C (p.Leu348Ser) rs1591749381
NM_001987.5(ETV6):c.1076G>T (p.Arg359Leu)
NM_001987.5(ETV6):c.1085A>G (p.Asp362Gly) rs2136595925
NM_001987.5(ETV6):c.1113_1120delinsCCCCCCAC (p.Asp372_Asn374delinsProProHis) rs2136596195
NM_001987.5(ETV6):c.1152+6del rs2136596612

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