List of variants in gene COL3A1 studied for Cardiovascular phenotype

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000090.4(COL3A1):c.1424C>T (p.Ala475Val)	rs770168441	0.00004
NM_000090.4(COL3A1):c.4073G>A (p.Arg1358Gln)	rs745656610	0.00002
NM_000090.4(COL3A1):c.198A>G (p.Ile66Met)	rs372269408	0.00001
NM_000090.4(COL3A1):c.4300C>T (p.Arg1434Cys)	rs747324731	0.00001
NM_000090.4(COL3A1):c.508G>A (p.Ala170Thr)	rs374476865	0.00001
NM_000090.4(COL3A1):c.1232G>A (p.Gly411Glu)	rs886038816
NM_000090.4(COL3A1):c.2022+4G>A	rs886038865
NM_000090.4(COL3A1):c.2519G>T (p.Gly840Val)	rs886038895
NM_000090.4(COL3A1):c.2642del (p.Pro881fs)	rs886038920
NM_000090.4(COL3A1):c.2927T>C (p.Val976Ala)	rs886038939
NM_000090.4(COL3A1):c.3103G>A (p.Gly1035Ser)	rs587779704
NM_000090.4(COL3A1):c.3205C>T (p.Pro1069Ser)	rs200122671
NM_000090.4(COL3A1):c.3229G>A (p.Gly1077Ser)	rs886038892
NM_000090.4(COL3A1):c.3500_3501delinsAA (p.Gly1167Glu)	rs886038925

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