ClinVar Miner

List of variants in gene COL5A2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101 0.01792
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748 0.01542
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_000393.5(COL5A2):c.2032-7G>A rs141571092 0.00265
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780 0.00245
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075 0.00235
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616 0.00120
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743 0.00118
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596 0.00108
NM_000393.5(COL5A2):c.*848T>C rs72902303 0.00076
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val) rs141777954 0.00075
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=) rs148795690 0.00065
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00061
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365 0.00041
NM_000393.5(COL5A2):c.*904A>C rs778818824 0.00038
NM_000393.5(COL5A2):c.2230-16T>A rs375334470 0.00031
NM_000393.5(COL5A2):c.852G>A (p.Pro284=) rs150092345 0.00031
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969 0.00029
NM_000393.5(COL5A2):c.322+8T>C rs372227642 0.00026
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320 0.00026
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501 0.00026
NM_000393.5(COL5A2):c.2338-6T>C rs375291199 0.00020
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=) rs148229627 0.00018
NM_000393.5(COL5A2):c.263C>A (p.Pro88His) rs149877855 0.00016
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736 0.00011
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val) rs201486858 0.00011
NM_000393.5(COL5A2):c.2855G>A (p.Arg952His) rs139264859 0.00011
NM_000393.5(COL5A2):c.3919C>G (p.Gln1307Glu) rs142814184 0.00011
NM_000393.5(COL5A2):c.403-3T>C rs369733690 0.00010
NM_000393.5(COL5A2):c.2408T>C (p.Leu803Ser) rs149737825 0.00006
NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser) rs770554435 0.00006
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397 0.00006
NM_000393.5(COL5A2):c.389G>A (p.Arg130His) rs377331666 0.00006
NM_000393.5(COL5A2):c.4471G>A (p.Val1491Ile) rs200703515 0.00005
NM_000393.5(COL5A2):c.3222G>A (p.Gly1074=) rs149574060 0.00004
NM_000393.5(COL5A2):c.398C>T (p.Pro133Leu) rs374225489 0.00004
NM_000393.5(COL5A2):c.4455A>G (p.Thr1485=) rs371225266 0.00004
NM_000393.5(COL5A2):c.1006-8G>A rs200405052 0.00003
NM_000393.5(COL5A2):c.1073C>T (p.Ala358Val) rs886039197 0.00003
NM_000393.5(COL5A2):c.1261G>A (p.Ala421Thr) rs200839338 0.00002
NM_000393.5(COL5A2):c.1563+5A>G rs777118100 0.00001
NM_000393.5(COL5A2):c.2424G>A (p.Pro808=) rs200019093 0.00001
NM_000393.5(COL5A2):c.3195A>G (p.Gly1065=) rs746246121 0.00001
NM_000393.5(COL5A2):c.3200G>A (p.Arg1067His) rs780705330 0.00001
NM_000393.5(COL5A2):c.5T>C (p.Met2Thr) rs762874073 0.00001
NM_000393.5(COL5A2):c.1114G>T (p.Gly372Trp)
NM_000393.5(COL5A2):c.1257+5G>C rs1553515867
NM_000393.5(COL5A2):c.2031+58T>A
NM_000393.5(COL5A2):c.2318C>T (p.Pro773Leu)
NM_000393.5(COL5A2):c.2337A>G (p.Arg779=)
NM_000393.5(COL5A2):c.2391+5G>A rs1553514799
NM_000393.5(COL5A2):c.2471T>A (p.Val824Asp)
NM_000393.5(COL5A2):c.2661T>A (p.His887Gln)
NM_000393.5(COL5A2):c.2770-6T>A
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313
NM_000393.5(COL5A2):c.2981T>A (p.Ile994Asn)
NM_000393.5(COL5A2):c.3061C>A (p.Pro1021Thr)
NM_000393.5(COL5A2):c.3218C>G (p.Pro1073Arg)
NM_000393.5(COL5A2):c.339A>G (p.Gly113=)
NM_000393.5(COL5A2):c.3524G>A (p.Arg1175Lys)
NM_000393.5(COL5A2):c.3721G>A (p.Asp1241Asn) rs1576486531
NM_000393.5(COL5A2):c.4107G>A (p.Gly1369=)
NM_000393.5(COL5A2):c.4117G>A (p.Ala1373Thr) rs1685418656
NM_000393.5(COL5A2):c.4374C>T (p.Gly1458=) rs1553512315
NM_000393.5(COL5A2):c.442C>A (p.Pro148Thr)
NM_000393.5(COL5A2):c.569C>T (p.Pro190Leu) rs774969990
NM_000393.5(COL5A2):c.875C>T (p.Ala292Val) rs1211991688
NM_000393.5(COL5A2):c.982C>T (p.Pro328Ser)

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