List of variants in gene EXT2 reported as uncertain significance by Illumina Laboratory Services, Illumina

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: 33

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HGVS	dbSNP	gnomAD frequency
NM_207122.2(EXT2):c.*1153A>T	rs185285766	0.00034
NM_207122.2(EXT2):c.1726G>A (p.Glu576Lys)	rs373582542	0.00021
NM_207122.2(EXT2):c.*945G>A	rs886048282	0.00019
NM_207122.2(EXT2):c.*838T>G	rs991198189	0.00016
NM_207122.2(EXT2):c.*440A>G	rs529075674	0.00011
NM_207122.2(EXT2):c.*731A>G	rs886048281	0.00010
NM_207122.2(EXT2):c.*381T>C	rs886048280	0.00006
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln)	rs770821909	0.00005
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)	rs765648513	0.00004
NM_207122.2(EXT2):c.*339C>T	rs759615273	0.00003
NM_207122.2(EXT2):c.-26G>T	rs369437823	0.00002
NM_207122.2(EXT2):c.1109T>C (p.Met370Thr)	rs199711832	0.00002
NM_207122.2(EXT2):c.1935G>A (p.Lys645=)	rs752606551	0.00002
NM_207122.2(EXT2):c.*862T>G	rs192098481	0.00001
NM_207122.2(EXT2):c.*93G>A	rs886048278	0.00001
NM_207122.2(EXT2):c.1019T>A (p.Val340Asp)	rs371996957	0.00001
NM_207122.2(EXT2):c.151G>A (p.Glu51Lys)	rs763384036	0.00001
NM_207122.2(EXT2):c.860C>A (p.Thr287Asn)	rs886048275	0.00001
NM_207122.2(EXT2):c.895C>T (p.Arg299Cys)	rs375468766	0.00001
NM_207122.2(EXT2):c.*368C>T	rs886048279
NM_207122.2(EXT2):c.*672G>C	rs1956079951
NM_207122.2(EXT2):c.*882G>T	rs1956082516
NM_207122.2(EXT2):c.1291G>A (p.Asp431Asn)	rs886048276
NM_207122.2(EXT2):c.1499C>G (p.Ser500Cys)	rs1955587849
NM_207122.2(EXT2):c.1575T>A (p.Pro525=)	rs372914384
NM_207122.2(EXT2):c.198G>C (p.Val66=)	rs775542605
NM_207122.2(EXT2):c.2031CAA[1] (p.Asn678del)	rs753223281
NM_207122.2(EXT2):c.205G>A (p.Val69Ile)	rs200809171
NM_207122.2(EXT2):c.31G>A (p.Gly11Ser)	rs886048274
NM_207122.2(EXT2):c.50G>A (p.Arg17Lys)	rs1240693088
NM_207122.2(EXT2):c.545G>A (p.Arg182Gln)	rs563383543
NM_207122.2(EXT2):c.805C>T (p.Leu269=)	rs773486418
NM_207122.2(EXT2):c.937C>G (p.Gln313Glu)	rs763718818

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