ClinVar Miner

List of variants in gene ETV6 studied for blood coagulation disease

Included ClinVar conditions (155):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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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.605G>A (p.Arg202Gln) rs200351280 0.00009
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.1195C>T (p.Arg399Cys) rs724159945
NM_001987.5(ETV6):c.1196G>A (p.Arg399His) rs2136602321
NM_001987.5(ETV6):c.119C>T (p.Ala40Val)
NM_001987.5(ETV6):c.1235G>T (p.Gly412Val)
NM_001987.5(ETV6):c.1252A>G (p.Arg418Gly) rs786205226
NM_001987.5(ETV6):c.1253G>T (p.Arg418Met)
NM_001987.5(ETV6):c.1254-2A>C
NM_001987.5(ETV6):c.1254G>T (p.Arg418Ser)
NM_001987.5(ETV6):c.133del (p.Glu45fs)
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.527T>C (p.Ile176Thr)
NM_001987.5(ETV6):c.614del (p.Leu205fs) rs1555144911
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) rs724159947
NM_001987.5(ETV6):c.754C>T (p.His252Tyr)
NM_001987.5(ETV6):c.775dup (p.Arg259fs)
NM_001987.5(ETV6):c.968C>G (p.Ser323Cys)
Single allele

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