List of variants in gene combination COL5A1, LOC101448202 reported as likely benign for Ehlers-Danlos syndrome type 7A

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: 36

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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.*1562A>G	rs116561240	0.02592
NM_000093.5(COL5A1):c.*1642G>A	rs116053626	0.02360
NM_000093.5(COL5A1):c.*1922G>A	rs74979726	0.02332
NM_000093.5(COL5A1):c.*724C>T	rs116156416	0.02219
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.5068-7T>C	rs113256540	0.01472
NM_000093.5(COL5A1):c.*660G>A	rs73664168	0.01440
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=)	rs61729481	0.01170
NM_000093.5(COL5A1):c.4699-6C>T	rs113090154	0.00923
NM_000093.5(COL5A1):c.*629A>G	rs150345666	0.00897
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=)	rs61729558	0.00781
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.*269C>T	rs372857096	0.00557
NM_000093.5(COL5A1):c.*190G>A	rs55748801	0.00500
NM_000093.5(COL5A1):c.5137-12C>T	rs191758714	0.00488
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met)	rs2229817	0.00346
NM_000093.5(COL5A1):c.*58C>T	rs56259444	0.00207
NM_000093.5(COL5A1):c.*2429T>C	rs56031840	0.00148
NM_000093.5(COL5A1):c.*1343A>G	rs77145856	0.00088
NM_000093.5(COL5A1):c.4795G>C (p.Glu1599Gln)	rs149212775	0.00083
NM_000093.5(COL5A1):c.*424A>G	rs574355137	0.00037
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=)	rs149959668	0.00034
NM_000093.5(COL5A1):c.*145G>A	rs181323324	0.00023
NM_000093.5(COL5A1):c.*608G>A	rs537858864	0.00009
NM_000093.5(COL5A1):c.*2090C>T	rs578207933	0.00006
NM_000093.5(COL5A1):c.*302C>G	rs376087882	0.00005
NM_000093.5(COL5A1):c.*1260G>A	rs557696379	0.00001
NM_000093.5(COL5A1):c.*1653dup	rs541530510
NM_000093.5(COL5A1):c.*1807G>C	rs374715103
NM_000093.5(COL5A1):c.*948C>G	rs142032213
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=)	rs2228560

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