ClinVar Miner

List of variants in gene COL5A2 studied for Cardiovascular phenotype

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Total variants: 102
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HGVS dbSNP
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=) rs140609193
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=) rs148786600
NM_000393.5(COL5A2):c.1073C>T (p.Ala358Val) rs886039197
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=) rs148229627
NM_000393.5(COL5A2):c.1184G>A (p.Arg395Gln) rs766119748
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000393.5(COL5A2):c.1351T>C (p.Ser451Pro) rs548441536
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636
NM_000393.5(COL5A2):c.1394G>T (p.Gly465Val) rs886039081
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272
NM_000393.5(COL5A2):c.141G>A (p.Met47Ile) rs1553519048
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101
NM_000393.5(COL5A2):c.1577A>G (p.Asn526Ser) rs1553515522
NM_000393.5(COL5A2):c.1588C>G (p.Pro530Ala) rs772872008
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser) rs768348357
NM_000393.5(COL5A2):c.1776G>A (p.Ala592=) rs773332771
NM_000393.5(COL5A2):c.1808G>C (p.Gly603Ala) rs1553515338
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.5(COL5A2):c.1A>G (p.Met1Val) rs563606558
NM_000393.5(COL5A2):c.2002C>A (p.Gln668Lys) rs144652675
NM_000393.5(COL5A2):c.2043T>C (p.Gly681=) rs1553515128
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969
NM_000393.5(COL5A2):c.2341G>A (p.Gly781Ser) rs781215270
NM_000393.5(COL5A2):c.2392-4A>G rs758314268
NM_000393.5(COL5A2):c.247G>T (p.Ala83Ser) rs1553519033
NM_000393.5(COL5A2):c.2488C>T (p.Arg830Trp) rs778544623
NM_000393.5(COL5A2):c.2492G>C (p.Gly831Ala) rs141210030
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748
NM_000393.5(COL5A2):c.249C>T (p.Ala83=) rs142388534
NM_000393.5(COL5A2):c.250G>A (p.Asp84Asn) rs745528957
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile) rs375124784
NM_000393.5(COL5A2):c.2544C>T (p.Ala848=) rs370774253
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.5(COL5A2):c.2563G>A (p.Gly855Arg) rs1064795616
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596
NM_000393.5(COL5A2):c.2712G>A (p.Pro904=) rs372869641
NM_000393.5(COL5A2):c.2716-4C>T rs111644889
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val) rs201486858
NM_000393.5(COL5A2):c.2831G>C (p.Arg944Pro) rs761988412
NM_000393.5(COL5A2):c.2846C>G (p.Ser949Cys) rs201961021
NM_000393.5(COL5A2):c.2849A>G (p.His950Arg) rs761035694
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu) rs778835151
NM_000393.5(COL5A2):c.2884C>A (p.Pro962Thr) rs754018138
NM_000393.5(COL5A2):c.288T>C (p.Cys96=) rs577308799
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=) rs201299226
NM_000393.5(COL5A2):c.3091C>T (p.Pro1031Ser) rs187336363
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp) rs374549843
NM_000393.5(COL5A2):c.3222G>A (p.Gly1074=) rs149574060
NM_000393.5(COL5A2):c.3246G>C (p.Gln1082His) rs1039715132
NM_000393.5(COL5A2):c.3290C>T (p.Ala1097Val) rs1162768110
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395
NM_000393.5(COL5A2):c.3338G>T (p.Gly1113Val) rs981465775
NM_000393.5(COL5A2):c.33C>T (p.Leu11=) rs140108893
NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg) rs758412337
NM_000393.5(COL5A2):c.3582G>A (p.Gly1194=) rs140022057
NM_000393.5(COL5A2):c.3646G>A (p.Glu1216Lys) rs755429175
NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser) rs199621926
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397
NM_000393.5(COL5A2):c.379A>G (p.Ile127Val) rs1064795177
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=) rs148795690
NM_000393.5(COL5A2):c.3848G>A (p.Arg1283His) rs747653593
NM_000393.5(COL5A2):c.3855C>T (p.Pro1285=) rs199904322
NM_000393.5(COL5A2):c.3883A>G (p.Thr1295Ala) rs765068787
NM_000393.5(COL5A2):c.3913G>A (p.Ala1305Thr) rs372897632
NM_000393.5(COL5A2):c.403-3T>C rs369733690
NM_000393.5(COL5A2):c.4096A>G (p.Met1366Val) rs372226064
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=) rs148590409
NM_000393.5(COL5A2):c.4197G>A (p.Gln1399=) rs78870279
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val) rs141777954
NM_000393.5(COL5A2):c.4316T>C (p.Ile1439Thr) rs754240060
NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln) rs144430633
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320
NM_000393.5(COL5A2):c.4402A>G (p.Asn1468Asp) rs756550702
NM_000393.5(COL5A2):c.4409C>T (p.Ala1470Val) rs140109751
NM_000393.5(COL5A2):c.4423A>G (p.Ile1475Val) rs886039069
NM_000393.5(COL5A2):c.4443T>C (p.Asp1481=) rs142857608
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=) rs78905646
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365
NM_000393.5(COL5A2):c.4451G>A (p.Gly1484Asp) rs761481937
NM_000393.5(COL5A2):c.4470C>T (p.Gly1490=) rs142895373
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu) rs527433112
NM_000393.5(COL5A2):c.454C>A (p.Pro152Thr) rs1553518198
NM_000393.5(COL5A2):c.490C>G (p.Pro164Ala) rs1218677057
NM_000393.5(COL5A2):c.586G>C (p.Ala196Pro) rs142855115
NM_000393.5(COL5A2):c.587C>A (p.Ala196Asp) rs746671710
NM_000393.5(COL5A2):c.5T>C (p.Met2Thr) rs762874073
NM_000393.5(COL5A2):c.680A>G (p.Gln227Arg) rs1553517410
NM_000393.5(COL5A2):c.750G>A (p.Pro250=) rs751819198
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu) rs540573303
NM_000393.5(COL5A2):c.894G>C (p.Leu298=) rs186775192
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474

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