ClinVar Miner

List of variants in gene COL6A2 reported by Athena Diagnostics Inc

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Total variants: 16
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HGVS dbSNP
NM_001849.3(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828
NM_001849.3(COL6A2):c.1493G>A (p.Arg498His) rs267606749
NM_001849.3(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141
NM_001849.3(COL6A2):c.1770+4G>A rs9981981
NM_001849.3(COL6A2):c.1970-9G>A rs747900252
NM_001849.3(COL6A2):c.2039G>A (p.Arg680His) rs1042917
NM_001849.3(COL6A2):c.2094G>A (p.Ala698=) rs13052956
NM_001849.3(COL6A2):c.2097C>T (p.Gly699=) rs13046639
NM_001849.3(COL6A2):c.2160C>G (p.Arg720=) rs61735829
NM_001849.3(COL6A2):c.2163G>A (p.Gln721=) rs16978875
NM_001849.3(COL6A2):c.2184G>A (p.Val728=) rs2839114
NM_001849.3(COL6A2):c.2646del (p.Phe882Leufs) rs1555877282
NM_001849.3(COL6A2):c.3017C>T (p.Ala1006Val) rs113169531
NM_001849.3(COL6A2):c.663C>T (p.Pro221=) rs59531343
NM_001849.3(COL6A2):c.679G>A (p.Asp227Asn) rs35881321
NM_001849.3(COL6A2):c.714+9C>T rs78822624

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