ClinVar Miner

List of variants in gene COL1A2 studied for Connective tissue disorder

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile) rs368468 0.00177
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163 0.00077
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311 0.00066
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser) rs189557655 0.00060
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_000089.4(COL1A2):c.2163C>T (p.Gly721=) rs150670521 0.00025
NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343 0.00016
NM_000089.4(COL1A2):c.2836-17C>T rs370073620 0.00014
NM_000089.4(COL1A2):c.2566-6A>G rs141088934 0.00012
NM_000089.4(COL1A2):c.395G>A (p.Arg132His) rs372678526 0.00009
NM_000089.4(COL1A2):c.1036-3T>C rs370275593 0.00007
NM_000089.4(COL1A2):c.1876G>A (p.Val626Met) rs374878685 0.00006
NM_000089.4(COL1A2):c.286A>G (p.Met96Val) rs763509640 0.00004
NM_000089.4(COL1A2):c.48C>T (p.Thr16=) rs780687409 0.00004
NM_000089.4(COL1A2):c.1198-12A>G rs1292046736 0.00001
NM_000089.4(COL1A2):c.1251+19dup rs762359173 0.00001
NM_000089.4(COL1A2):c.1318C>T (p.Arg440Cys) rs754825427 0.00001
NM_000089.4(COL1A2):c.1447G>A (p.Ala483Thr) rs960325497 0.00001
NM_000089.4(COL1A2):c.81+8A>C rs765118884 0.00001
NM_000089.4(COL1A2):c.3181C>A (p.Pro1061Thr) rs1554398544
NM_000089.4(COL1A2):c.3710A>G (p.Gln1237Arg) rs1554398713
NM_000089.4(COL1A2):c.475G>A (p.Val159Ile) rs886062514
NM_000089.4(COL1A2):c.779C>T (p.Ala260Val) rs1554395967
NM_000089.4(COL1A2):c.96+13T>C rs1554394649

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