List of variants in gene COL5A2 reported as pathogenic for Ehlers-Danlos syndrome, classic type

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000393.5(COL5A2):c.1617+4A>G	rs1553515517
NM_000393.5(COL5A2):c.1924-2_1928del	rs786205103
NM_000393.5(COL5A2):c.2031+1G>T	rs786205104
NM_000393.5(COL5A2):c.2553+2del	rs1553514506
NM_000393.5(COL5A2):c.2919dup (p.Asp974fs)	rs1685782021
NM_000393.5(COL5A2):c.3148-2A>G	rs1553513971
NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg)	rs121912930
NM_000393.5(COL5A2):c.4298del (p.Ile1433fs)	rs1553512393

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