List of variants in gene ETV5 reported as uncertain significance by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_004454.3(ETV5):c.868A>G (p.Met290Val)	rs376850706	0.00016
NM_004454.3(ETV5):c.370G>A (p.Asp124Asn)	rs377678658	0.00008
NM_004454.3(ETV5):c.455C>A (p.Pro152Gln)	rs537105512	0.00007
NM_004454.3(ETV5):c.334T>C (p.Tyr112His)	rs200054486	0.00005
NM_004454.3(ETV5):c.631C>G (p.Gln211Glu)	rs199751532	0.00005
NM_004454.3(ETV5):c.734G>A (p.Arg245Gln)	rs114869847	0.00005
NM_004454.3(ETV5):c.319G>T (p.Ala107Ser)	rs745776119	0.00002
NM_004454.3(ETV5):c.73C>T (p.Arg25Trp)	rs112315086	0.00002
NM_004454.3(ETV5):c.1414G>A (p.Glu472Lys)	rs138683352	0.00001
NM_004454.3(ETV5):c.776C>G (p.Pro259Arg)	rs1324052802	0.00001
NM_004454.3(ETV5):c.1159A>G (p.Ile387Val)	rs2473898088
NM_004454.3(ETV5):c.1469C>T (p.Pro490Leu)	rs2473887213
NM_004454.3(ETV5):c.292G>A (p.Glu98Lys)
NM_004454.3(ETV5):c.311A>G (p.His104Arg)	rs752940067
NM_004454.3(ETV5):c.364G>A (p.Ala122Thr)
NM_004454.3(ETV5):c.36G>A (p.Met12Ile)	rs2473962227
NM_004454.3(ETV5):c.386C>G (p.Ser129Cys)	rs780967082
NM_004454.3(ETV5):c.397C>T (p.Pro133Ser)
NM_004454.3(ETV5):c.415A>G (p.Thr139Ala)
NM_004454.3(ETV5):c.44G>T (p.Gly15Val)
NM_004454.3(ETV5):c.704T>C (p.Val235Ala)	rs778213774
NM_004454.3(ETV5):c.965A>G (p.His322Arg)
NM_004454.3(ETV5):c.969A>T (p.Glu323Asp)
NM_004454.3(ETV5):c.971G>C (p.Gly324Ala)	rs2473898855
NM_004454.3(ETV5):c.995G>A (p.Arg332Gln)

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