List of variants in gene COMP reported as pathogenic for bone development disease

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: 29

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HGVS	dbSNP	gnomAD frequency
NM_000095.3(COMP):c.1042T>C (p.Cys348Arg)	rs137852656
NM_000095.3(COMP):c.1045G>C (p.Asp349His)
NM_000095.3(COMP):c.1114GAC[2] (p.Asp374del)	rs1198060288
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn)	rs1601054715
NM_000095.3(COMP):c.1153G>T (p.Asp385Tyr)	rs1601054715
NM_000095.3(COMP):c.1309G>C (p.Asp437His)	rs2055165476
NM_000095.3(COMP):c.1309G>T (p.Asp437Tyr)	rs2055165476
NM_000095.3(COMP):c.1315G>T (p.Asp439Tyr)	rs1601054002
NM_000095.3(COMP):c.1368GGA[1] (p.Glu457del)	rs1601053887
NM_000095.3(COMP):c.1375_1377del (p.Ser459del)	rs2145900868
NM_000095.3(COMP):c.1403G>A (p.Cys468Tyr)	rs137852651
NM_000095.3(COMP):c.1405GAC[4] (p.Asp473del)	rs193922900
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup)	rs193922900
NM_000095.3(COMP):c.1405GAC[7] (p.Asp472_Asp473dup)
NM_000095.3(COMP):c.1414G>T (p.Asp472Tyr)	rs137852650
NM_000095.3(COMP):c.1418A>G (p.Asp473Gly)	rs28936669
NM_000095.3(COMP):c.1552G>C (p.Asp518His)	rs1359984033
NM_000095.3(COMP):c.1569C>G (p.Asn523Lys)	rs137852654
NM_000095.3(COMP):c.1754C>G (p.Thr585Arg)	rs312262900
NM_000095.3(COMP):c.2152C>T (p.Arg718Trp)	rs28936368
NM_000095.3(COMP):c.2223dup (p.Asn742fs)	rs869320730
NM_000095.3(COMP):c.811G>T (p.Asp271Tyr)	rs1131691835
NM_000095.3(COMP):c.868G>T (p.Asp290Tyr)	rs2145903266
NM_000095.3(COMP):c.874T>C (p.Cys292Arg)	rs2055184939
NM_000095.3(COMP):c.886C>T (p.Pro296Ser)	rs749583854
NM_000095.3(COMP):c.917_976-68del	rs2145902395
NM_000095.3(COMP):c.925G>A (p.Gly309Arg)	rs2145903203
NM_000095.3(COMP):c.976G>A (p.Asp326Asn)	rs2145902345
NM_000095.3(COMP):c.982T>C (p.Cys328Arg)	rs137852653

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