List of variants in gene combination COL5A1, LOC101448202 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.5370+11C>T	rs764644830	0.00032
NM_000093.5(COL5A1):c.4941C>T (p.Pro1647=)	rs747549921	0.00011
NM_000093.5(COL5A1):c.4659G>A (p.Pro1553=)	rs368782334	0.00010
NM_000093.5(COL5A1):c.4698G>A (p.Pro1566=)	rs147904867	0.00005
NM_000093.5(COL5A1):c.4473C>T (p.Ile1491=)	rs537768945	0.00004
NM_000093.5(COL5A1):c.4650A>T (p.Pro1550=)	rs778312075
NM_000093.5(COL5A1):c.5025C>G (p.Ala1675=)	rs560774273
NM_000093.5(COL5A1):c.5299C>T (p.Leu1767=)
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)	rs143859495

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