List of variants in gene combination COL5A1, LOC101448202 reported as uncertain significance for Ehlers-Danlos syndrome, arthrochalasia type

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.*2485G>A	rs146334187	0.00057
NM_000093.5(COL5A1):c.*42C>G	rs374547961	0.00041
NM_000093.5(COL5A1):c.*55G>A	rs533831376	0.00039
NM_000093.5(COL5A1):c.5370+11C>T	rs764644830	0.00032
NM_000093.5(COL5A1):c.*2294A>T	rs571153134	0.00019
NM_000093.5(COL5A1):c.*1734G>A	rs886063688	0.00016
NM_000093.5(COL5A1):c.*1845A>G	rs553877631	0.00016
NM_000093.5(COL5A1):c.*1848C>G	rs886063692	0.00016
NM_000093.5(COL5A1):c.*2175G>A	rs781775180	0.00016
NM_000093.5(COL5A1):c.*1887G>A	rs886063693	0.00009
NM_000093.5(COL5A1):c.*2410C>G	rs886063694	0.00009
NM_000093.5(COL5A1):c.*68C>T	rs886063679	0.00009
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys)	rs199703883	0.00005
NM_000093.5(COL5A1):c.*1788G>A	rs886063690	0.00004
NM_000093.5(COL5A1):c.*1787G>A	rs886063689	0.00002
NM_000093.5(COL5A1):c.4652C>T (p.Thr1551Ile)	rs863223460	0.00002
NM_000093.5(COL5A1):c.4955-13C>T	rs770897242	0.00002
NM_000093.5(COL5A1):c.*589G>A	rs886063682	0.00001
NM_000093.5(COL5A1):c.*596A>G	rs775044518	0.00001
NM_000093.5(COL5A1):c.4791T>C (p.Asn1597=)	rs886063677	0.00001
NM_000093.5(COL5A1):c.5263G>A (p.Ala1755Thr)	rs776748227	0.00001
NM_000093.5(COL5A1):c.5439G>T (p.Val1813=)	rs886063678	0.00001
NM_000093.5(COL5A1):c.1047_1049dup	rs886063686
NM_000093.5(COL5A1):c.*173C>T	rs886063680
NM_000093.5(COL5A1):c.*1849ACAA[3]	rs886063691
NM_000093.5(COL5A1):c.*2252T>C	rs529530286
NM_000093.5(COL5A1):c.*235C>T	rs886063681
NM_000093.5(COL5A1):c.*700G>C	rs750272409
NM_000093.5(COL5A1):c.*727dup	rs1554727609
NM_000093.5(COL5A1):c.*865dup	rs57599653
NM_000093.5(COL5A1):c.866_867insTAG	rs886063684
NM_000093.5(COL5A1):c.867_868insATAGG	rs1554727637
NM_000093.5(COL5A1):c.5371-12C>T	rs769740900

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