List of variants in gene COMP reported as likely pathogenic for bone disorder

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: 37

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HGVS	dbSNP	gnomAD frequency
NM_000095.3(COMP):c.1051T>C (p.Cys351Arg)	rs2145902239
NM_000095.3(COMP):c.1114GAC[2] (p.Asp374del)	rs1198060288
NM_000095.3(COMP):c.1126G>A (p.Asp376Asn)	rs1555791556
NM_000095.3(COMP):c.1126G>T (p.Asp376Tyr)	rs1555791556
NM_000095.3(COMP):c.1201G>C (p.Asp401His)	rs2055169002
NM_000095.3(COMP):c.1201G>T (p.Asp401Tyr)	rs2055169002
NM_000095.3(COMP):c.1210G>A (p.Gly404Arg)	rs2055168912
NM_000095.3(COMP):c.1228T>G (p.Cys410Gly)	rs2145901302
NM_000095.3(COMP):c.1265A>C (p.Asp422Ala)	rs1568554988
NM_000095.3(COMP):c.1309G>A (p.Asp437Asn)	rs2055165476
NM_000095.3(COMP):c.1315G>A (p.Asp439Asn)	rs1601054002
NM_000095.3(COMP):c.1315G>T (p.Asp439Tyr)	rs1601054002
NM_000095.3(COMP):c.1316A>G (p.Asp439Gly)
NM_000095.3(COMP):c.1317C>G (p.Asp439Glu)	rs368273443
NM_000095.3(COMP):c.1367A>C (p.Gln456Pro)	rs2145900873
NM_000095.3(COMP):c.1394G>T (p.Gly465Val)	rs2145900849
NM_000095.3(COMP):c.1403G>C (p.Cys468Ser)	rs137852651
NM_000095.3(COMP):c.1416_1421del (p.Asn474_Asp475del)	rs2055164523
NM_000095.3(COMP):c.1417G>C (p.Asp473His)
NM_000095.3(COMP):c.1445A>T (p.Asp482Val)	rs2055164276
NM_000095.3(COMP):c.1501G>A (p.Gly501Ser)	rs2145900523
NM_000095.3(COMP):c.1521C>G (p.Asp507Glu)	rs2145900494
NM_000095.3(COMP):c.1545C>A (p.Asp515Glu)
NM_000095.3(COMP):c.1569C>G (p.Asn523Lys)	rs137852654
NM_000095.3(COMP):c.1665C>G (p.Asn555Lys)
NM_000095.3(COMP):c.2152C>T (p.Arg718Trp)	rs28936368
NM_000095.3(COMP):c.2170dup (p.Val724fs)	rs2145897697
NM_000095.3(COMP):c.763T>C (p.Cys255Arg)	rs1601057570
NM_000095.3(COMP):c.818A>G (p.Asp273Gly)
NM_000095.3(COMP):c.818A>T (p.Asp273Val)	rs1601057491
NM_000095.3(COMP):c.874T>C (p.Cys292Arg)	rs2055184939
NM_000095.3(COMP):c.887C>G (p.Pro296Arg)	rs1601057167
NM_000095.3(COMP):c.891C>A (p.Asn297Lys)	rs2145903243
NM_000095.3(COMP):c.949G>T (p.Asp317Tyr)	rs2145903160
NM_000095.3(COMP):c.950A>G (p.Asp317Gly)
NM_000095.3(COMP):c.950A>T (p.Asp317Val)	rs1601057057
NM_000095.3(COMP):c.983G>T (p.Cys328Phe)	rs2145902336

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