List of variants in gene COMP reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup)	rs193922900
NM_000095.3(COMP):c.1502G>A (p.Gly501Asp)	rs1555791425
NM_000095.3(COMP):c.805G>A (p.Asp269Asn)	rs2145903436
NM_000095.3(COMP):c.831_851del (p.Asp277_Pro283del)	rs2055186059

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