ClinVar Miner

List of variants in gene COL3A1 reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=) rs1801184 0.27029
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255 0.21080
NM_000090.4(COL3A1):c.1851G>A (p.Gln617=) rs7579903 0.15955
NM_000090.4(COL3A1):c.1257C>T (p.Ala419=) rs41272837 0.01731
NM_000090.4(COL3A1):c.1770T>C (p.Pro590=) rs80302667 0.01481
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773 0.00584
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890 0.00503
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=) rs41263757 0.00240
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_000090.4(COL3A1):c.2712C>T (p.Pro904=) rs375673185 0.00010
NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr) rs200394946 0.00006
NM_000090.4(COL3A1):c.2187A>G (p.Gly729=) rs772997837 0.00002
NM_000090.4(COL3A1):c.1836T>C (p.Gly612=) rs1576467117 0.00001
NM_000090.4(COL3A1):c.3690C>G (p.Asn1230Lys) rs1190691997 0.00001
NM_000090.4(COL3A1):c.3757G>A (p.Gly1253Ser) rs1447586307 0.00001
NM_000090.4(COL3A1):c.1347+1G>C
NM_000090.4(COL3A1):c.1871G>T (p.Gly624Val) rs1553508463
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.3472G>C (p.Gly1158Arg) rs587779715
NM_000090.4(COL3A1):c.4267G>T (p.Glu1423Ter) rs1553510000

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