List of variants in gene COL1A1 reported as likely pathogenic for Ehlers-Danlos syndrome, arthrochalasia type

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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_000088.4(COL1A1):c.159G>A (p.Trp53Ter)
NM_000088.4(COL1A1):c.3002del (p.Gly1001fs)	rs1598288593
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile)	rs72667022
NM_000088.4(COL1A1):c.599G>T (p.Gly200Val)	rs72667029

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