ClinVar Miner

List of variants in gene COL6A2 reported by Genetic Services Laboratory, University of Chicago

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Total variants: 24
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HGVS dbSNP
NM_001849.3(COL6A2):c.1196G>A (p.Ser399Asn) rs2839110
NM_001849.3(COL6A2):c.1333-8T>C rs73159701
NM_001849.3(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141
NM_001849.3(COL6A2):c.1609-10C>T rs17357592
NM_001849.3(COL6A2):c.1671+10A>G rs915786
NM_001849.3(COL6A2):c.1770+4G>A rs9981981
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.2220T>C (p.Asp740=) rs61735830
NM_001849.3(COL6A2):c.2489G>A (p.Arg830Gln) rs139552940
NM_001849.3(COL6A2):c.2633C>T (p.Ala878Val) rs774521989
NM_001849.3(COL6A2):c.2761G>T (p.Val921Leu) rs398123650
NM_001849.3(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825
NM_001849.3(COL6A2):c.2983G>A (p.Ala995Thr) rs35139588
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
NM_001849.3(COL6A2):c.832G>A (p.Glu278Lys) rs61735835
NM_001849.3(COL6A2):c.892G>A (p.Gly298Arg) rs797045478
NM_001849.3(COL6A2):c.902G>T (p.Gly301Val) rs1555872965

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