List of variants in gene COL1A2 reported as pathogenic for cardiovascular disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000089.4(COL1A2):c.1404+1G>A	rs67162110	0.00001
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)	rs66619856
NM_000089.4(COL1A2):c.1127G>T (p.Gly376Val)	rs67543427
NM_000089.4(COL1A2):c.1404+1G>C	rs67162110
NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val)	rs72658150
NM_000089.4(COL1A2):c.293dup (p.Pro98_Arg99insTer)	rs797044459
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)	rs72659319
NM_000089.4(COL1A2):c.3601G>T (p.Glu1201Ter)	rs72659343
NM_000089.4(COL1A2):c.540+5G>A	rs72656367
NM_000089.4(COL1A2):c.70+717A>G	rs72656354
NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser)	rs66612022

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