List of variants in gene combination COL5A1, LOC101448202 reported as likely benign by Breakthrough Genomics, Breakthrough Genomics

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: 33

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.*311C>T	rs1134114	0.06809
NM_000093.5(COL5A1):c.*1443G>A	rs10895	0.05700
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=)	rs2228559	0.03652
NM_000093.5(COL5A1):c.*1642G>A	rs116053626	0.02360
NM_000093.5(COL5A1):c.4955-137C>T	rs72774480	0.02351
NM_000093.5(COL5A1):c.*1922G>A	rs74979726	0.02332
NM_000093.5(COL5A1):c.*1637C>A	rs148823980	0.01576
NM_000093.5(COL5A1):c.*1806C>T	rs11556648	0.01480
NM_000093.5(COL5A1):c.*660G>A	rs73664168	0.01440
NM_000093.5(COL5A1):c.5067+47G>A	rs78846229	0.01207
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=)	rs61729481	0.01170
NM_000093.5(COL5A1):c.4447-44C>T	rs112700360	0.01108
NM_000093.5(COL5A1):c.4554+102C>T	rs73561955	0.01101
NM_000093.5(COL5A1):c.4447-101C>T	rs80224569	0.00955
NM_000093.5(COL5A1):c.*629A>G	rs150345666	0.00897
NM_000093.5(COL5A1):c.5136+152C>T	rs113504942	0.00827
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=)	rs61729558	0.00781
NM_000093.5(COL5A1):c.4699-60C>T	rs78125481	0.00777
NM_000093.5(COL5A1):c.5136+40A>G	rs183298179	0.00678
NM_000093.5(COL5A1):c.*283G>A	rs114171895	0.00635
NM_000093.5(COL5A1):c.*14C>T	rs12553247	0.00580
NM_000093.5(COL5A1):c.5371-46C>T	rs73664167	0.00567
NM_000093.5(COL5A1):c.*269C>T	rs372857096	0.00557
NM_000093.5(COL5A1):c.5137-11T>C	rs183495554	0.00512
NM_000093.5(COL5A1):c.4608+232C>T	rs141398004	0.00507
NM_000093.5(COL5A1):c.*190G>A	rs55748801	0.00500
NM_000093.5(COL5A1):c.4955-48G>A	rs60879388	0.00480
NM_000093.5(COL5A1):c.5136+192G>A	rs73561989	0.00466
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met)	rs2229817	0.00346
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=)	rs200348547	0.00008
NM_000093.5(COL5A1):c.4785C>T (p.Asp1595=)	rs149981025	0.00004
NM_000093.5(COL5A1):c.4447-19T>C	rs1554806958
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=)	rs2228560

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