List of variants in gene EXT1 reported as uncertain significance for cancer

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: 67

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HGVS	dbSNP	gnomAD frequency
NM_000127.3(EXT1):c.1135G>A (p.Val379Ile)	rs371233961	0.00003
NM_000127.3(EXT1):c.1239G>T (p.Glu413Asp)	rs756701753	0.00003
NM_000127.3(EXT1):c.1450A>T (p.Ile484Phe)	rs763107867	0.00002
NM_000127.3(EXT1):c.2072G>A (p.Arg691His)	rs746678682	0.00002
NM_000127.3(EXT1):c.1504G>A (p.Val502Met)	rs778048374	0.00001
NM_000127.3(EXT1):c.1663A>G (p.Asn555Asp)	rs777698557	0.00001
NM_000127.3(EXT1):c.1765A>G (p.Ile589Val)	rs1823254644	0.00001
NM_000127.3(EXT1):c.1873A>G (p.Ile625Val)	rs773393953	0.00001
NM_000127.3(EXT1):c.252G>C (p.Gln84His)	rs376231630	0.00001
NM_000127.3(EXT1):c.302A>G (p.Glu101Gly)	rs1384997375	0.00001
NM_000127.3(EXT1):c.359C>T (p.Pro120Leu)	rs752226935	0.00001
NM_000127.3(EXT1):c.590C>G (p.Ser197Cys)	rs776678803	0.00001
NM_000127.3(EXT1):c.973C>T (p.Arg325Trp)	rs1394508840	0.00001
NM_000127.3(EXT1):c.106C>T (p.Arg36Trp)
NM_000127.3(EXT1):c.10A>C (p.Lys4Gln)
NM_000127.3(EXT1):c.1138A>G (p.Ile380Val)	rs747020325
NM_000127.3(EXT1):c.1151G>A (p.Arg384Lys)
NM_000127.3(EXT1):c.1175C>T (p.Thr392Ile)
NM_000127.3(EXT1):c.1187T>G (p.Ile396Ser)
NM_000127.3(EXT1):c.1196A>T (p.Asp399Val)
NM_000127.3(EXT1):c.131A>G (p.Asn44Ser)
NM_000127.3(EXT1):c.1355T>G (p.Leu452Trp)
NM_000127.3(EXT1):c.1388G>T (p.Gly463Val)
NM_000127.3(EXT1):c.146C>G (p.Pro49Arg)
NM_000127.3(EXT1):c.1486C>T (p.Pro496Ser)
NM_000127.3(EXT1):c.1524G>C (p.Gln508His)
NM_000127.3(EXT1):c.1582C>T (p.Arg528Cys)
NM_000127.3(EXT1):c.1618G>A (p.Glu540Lys)
NM_000127.3(EXT1):c.1666A>G (p.Ile556Val)
NM_000127.3(EXT1):c.1670T>C (p.Ile557Thr)
NM_000127.3(EXT1):c.1679C>T (p.Ala560Val)
NM_000127.3(EXT1):c.1688G>A (p.Ser563Asn)
NM_000127.3(EXT1):c.1814G>A (p.Arg605Gln)	rs755747479
NM_000127.3(EXT1):c.1883+5G>A
NM_000127.3(EXT1):c.1971G>C (p.Met657Ile)
NM_000127.3(EXT1):c.200C>A (p.Pro67His)	rs371817652
NM_000127.3(EXT1):c.200C>G (p.Pro67Arg)	rs371817652
NM_000127.3(EXT1):c.2063G>A (p.Arg688Gln)
NM_000127.3(EXT1):c.2065G>A (p.Ala689Thr)
NM_000127.3(EXT1):c.20A>G (p.Tyr7Cys)
NM_000127.3(EXT1):c.2125G>T (p.Ala709Ser)
NM_000127.3(EXT1):c.2161C>G (p.Gln721Glu)
NM_000127.3(EXT1):c.223G>T (p.Asp75Tyr)
NM_000127.3(EXT1):c.245C>T (p.Pro82Leu)
NM_000127.3(EXT1):c.251A>G (p.Gln84Arg)
NM_000127.3(EXT1):c.295C>T (p.Arg99Cys)
NM_000127.3(EXT1):c.329A>G (p.Lys110Arg)	rs1178109514
NM_000127.3(EXT1):c.404T>C (p.Leu135Pro)
NM_000127.3(EXT1):c.439G>T (p.Asp147Tyr)
NM_000127.3(EXT1):c.46T>G (p.Cys16Gly)
NM_000127.3(EXT1):c.47G>C (p.Cys16Ser)
NM_000127.3(EXT1):c.481T>G (p.Leu161Val)
NM_000127.3(EXT1):c.49C>T (p.Leu17Phe)
NM_000127.3(EXT1):c.537G>C (p.Gln179His)
NM_000127.3(EXT1):c.544C>T (p.His182Tyr)
NM_000127.3(EXT1):c.564G>T (p.Arg188Ser)	rs1817877271
NM_000127.3(EXT1):c.574A>G (p.Ile192Val)
NM_000127.3(EXT1):c.596C>A (p.Thr199Asn)
NM_000127.3(EXT1):c.635G>C (p.Gly212Ala)
NM_000127.3(EXT1):c.746G>A (p.Gly249Glu)
NM_000127.3(EXT1):c.775C>T (p.Leu259Phe)
NM_000127.3(EXT1):c.873C>G (p.Asp291Glu)	rs372750330
NM_000127.3(EXT1):c.901G>A (p.Gly301Ser)
NM_000127.3(EXT1):c.914A>G (p.Gln305Arg)
NM_000127.3(EXT1):c.923A>G (p.Lys308Arg)
NM_000127.3(EXT1):c.962A>G (p.Lys321Arg)
NM_000127.3(EXT1):c.977A>G (p.Glu326Gly)

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