List of variants in gene COL5A1 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: 15

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 9q34.3(chr9:137496881-137648441)
NC_000009.12:g.(?_134642178)_(134701343_?)del
NC_000009.12:g.(?_134690892)_(134763757_?)del
NC_000009.12:g.(?_134690902)_(134727407_?)del
NC_000009.12:g.(?_134699889)_(134700142_?)del
NC_000009.12:g.(?_134752569)_(134752665_?)del
NC_000009.12:g.(?_134782657)_(134842313_?)del
NM_000093.4(COL5A1):c.3369_3431dup	rs1838416489
NM_000093.5(COL5A1):c.1720-136_1929del
NM_000093.5(COL5A1):c.2140C>T (p.Gln714Ter)	rs1554796176
NM_000093.5(COL5A1):c.2203dup (p.Gln735fs)	rs1057519596
NM_000093.5(COL5A1):c.2785A>T (p.Lys929Ter)
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs)	rs786205100
NM_000093.5(COL5A1):c.3762del (p.Gly1255fs)	rs1057518653
NM_000093.5(COL5A1):c.4338+1G>A	rs1564481053

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