List of variants in gene COL5A1 reported as likely benign by Fulgent Genetics, Fulgent Genetics

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
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)	rs61735045	0.03116
NM_000093.5(COL5A1):c.1333-8A>G	rs145620416	0.00360
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=)	rs148648778	0.00340
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=)	rs143443499	0.00283
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=)	rs41310953	0.00253
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser)	rs149964491	0.00176
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=)	rs139544503	0.00102
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=)	rs61737719	0.00062
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=)	rs150940930	0.00021
NM_000093.5(COL5A1):c.3906+14C>T	rs377136680	0.00006
NM_000093.5(COL5A1):c.4374C>T (p.Asp1458=)	rs201335857	0.00004
NM_000093.5(COL5A1):c.1401C>T (p.Ile467=)	rs1452745305	0.00001
NM_000093.5(COL5A1):c.3669C>T (p.Pro1223=)	rs770392149	0.00001
NM_000093.5(COL5A1):c.786+11T>G	rs766319028	0.00001
NM_000093.5(COL5A1):c.2800-18C>T	rs73664144

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