List of variants in gene combination COL3A1, LOC126806446 reported as pathogenic for Ehlers-Danlos syndrome, vascular 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000090.4(COL3A1):c.1701_2392-342del
NM_000090.4(COL3A1):c.2284-108_3490del
NM_000090.4(COL3A1):c.2284-667_3256-44del
NM_000090.4(COL3A1):c.2338-31_3040-194del
NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg)	rs113485686
NM_000090.4(COL3A1):c.2357G>T (p.Gly786Val)	rs587779564
NM_000090.4(COL3A1):c.2392-3_2395del	rs1559059873
NM_000090.4(COL3A1):c.2398_2401del (p.Arg800fs)
NM_000090.4(COL3A1):c.2402G>A (p.Gly801Asp)	rs587779689
NM_000090.4(COL3A1):c.2437G>A (p.Gly813Ser)	rs397509369
NM_000090.4(COL3A1):c.2445+2dup	rs587779572
NM_000090.4(COL3A1):c.2445+5G>A	rs587779636

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