List of variants in gene COL1A2 reported as likely benign for Ehlers-danlos syndrome, arthrochalasia type, 2

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000089.4(COL1A2):c.1350+11A>T	rs193922160	0.00140
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)	rs72658163	0.00077
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser)	rs139851311	0.00066
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)	rs189557655	0.00060
NM_000089.4(COL1A2):c.2687C>T (p.Pro896Leu)	rs202068380	0.00011
NM_000089.4(COL1A2):c.2853T>C (p.Pro951=)	rs148362963	0.00010
NM_000089.4(COL1A2):c.2456G>A (p.Arg819His)	rs773985005	0.00008
NM_000089.4(COL1A2):c.1564C>T (p.Pro522Ser)	rs199732595	0.00007
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)	rs377278762	0.00006
NM_000089.4(COL1A2):c.3954T>C (p.Ser1318=)	rs781599112	0.00001
NM_000089.4(COL1A2):c.693+12C>A	rs767990110	0.00001
NM_000089.4(COL1A2):c.81+8A>C	rs765118884	0.00001
NM_000089.4(COL1A2):c.1036-14G>T	rs114322680

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