List of variants in gene ACAN 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001369268.1(ACAN):c.3758dup (p.Gly1254fs)	rs387906534
NM_001369268.1(ACAN):c.4138G>T (p.Val1380Phe)	rs1567185220
NM_001369268.1(ACAN):c.5061T>A (p.Ser1687Arg)	rs1567186585
NM_001369268.1(ACAN):c.7255G>A (p.Asp2419Asn)	rs121913568

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