List of variants in gene ETV6 reported as pathogenic for blood platelet disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001413917.1(ETV6):c.1010-5011_1010-5007del
NM_001987.5(ETV6):c.1195C>T (p.Arg399Cys)	rs724159945
NM_001987.5(ETV6):c.1252A>G (p.Arg418Gly)	rs786205226
NM_001987.5(ETV6):c.1254G>T (p.Arg418Ser)
NM_001987.5(ETV6):c.1288C>T (p.Arg430Ter)	rs1437274494
NM_001987.5(ETV6):c.614del (p.Leu205fs)	rs1555144911
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu)	rs724159947
Single allele

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