ClinVar Miner

List of variants in gene COL5A2 reported as likely benign by Ambry Genetics

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Gene type:
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Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.98-12T>G rs117917418 0.01199
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.4197G>A (p.Gln1399=) rs78870279 0.00221
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966 0.00199
NM_000393.5(COL5A2):c.33C>T (p.Leu11=) rs140108893 0.00130
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395 0.00119
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596 0.00108
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=) rs148590409 0.00087
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val) rs141777954 0.00075
NM_000393.5(COL5A2):c.186T>C (p.Cys62=) rs142832916 0.00066
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=) rs148795690 0.00065
NM_000393.5(COL5A2):c.2770-5A>G rs370313198 0.00060
NM_000393.5(COL5A2):c.3021C>T (p.Pro1007=) rs143318792 0.00058
NM_000393.5(COL5A2):c.2947C>T (p.Pro983Ser) rs141644853 0.00051
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365 0.00041
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046 0.00037
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583 0.00036
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=) rs140609193 0.00033
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.2103C>T (p.Pro701=) rs376612765 0.00022
NM_000393.5(COL5A2):c.3885G>A (p.Thr1295=) rs375110673 0.00019
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=) rs148229627 0.00018
NM_000393.5(COL5A2):c.3209G>A (p.Arg1070His) rs373288848 0.00018
NM_000393.5(COL5A2):c.2884C>A (p.Pro962Thr) rs754018138 0.00017
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp) rs145258293 0.00016
NM_000393.5(COL5A2):c.288T>C (p.Cys96=) rs577308799 0.00016
NM_000393.5(COL5A2):c.3728G>A (p.Ser1243Asn) rs140851866 0.00015
NM_000393.5(COL5A2):c.228C>T (p.Cys76=) rs564136480 0.00013
NM_000393.5(COL5A2):c.2634A>G (p.Gln878=) rs370304175 0.00011
NM_000393.5(COL5A2):c.4470C>T (p.Gly1490=) rs142895373 0.00010
NM_000393.5(COL5A2):c.2712G>A (p.Pro904=) rs372869641 0.00009
NM_000393.5(COL5A2):c.570G>A (p.Pro190=) rs139666335 0.00009
NM_000393.5(COL5A2):c.2895A>G (p.Pro965=) rs760946138 0.00008
NM_000393.5(COL5A2):c.4383C>G (p.Val1461=) rs368234550 0.00007
NM_000393.5(COL5A2):c.1776G>A (p.Ala592=) rs773332771 0.00006
NM_000393.5(COL5A2):c.2408T>C (p.Leu803Ser) rs149737825 0.00006
NM_000393.5(COL5A2):c.2854C>T (p.Arg952Cys) rs199530997 0.00006
NM_000393.5(COL5A2):c.3969A>C (p.Ala1323=) rs1131429 0.00006
NM_000393.5(COL5A2):c.4332C>T (p.Ile1444=) rs138837670 0.00006
NM_000393.5(COL5A2):c.735T>G (p.Pro245=) rs148851552 0.00006
NM_000393.5(COL5A2):c.2544C>T (p.Ala848=) rs370774253 0.00005
NM_000393.5(COL5A2):c.870T>C (p.Pro290=) rs139656817 0.00005
NM_000393.5(COL5A2):c.2343C>T (p.Gly781=) rs762976916 0.00004
NM_000393.5(COL5A2):c.3222G>A (p.Gly1074=) rs149574060 0.00004
NM_000393.5(COL5A2):c.3588T>C (p.Ile1196=) rs201460445 0.00004
NM_000393.5(COL5A2):c.3669G>A (p.Pro1223=) rs760353505 0.00004
NM_000393.5(COL5A2):c.3855C>T (p.Pro1285=) rs199904322 0.00004
NM_000393.5(COL5A2):c.3864G>A (p.Ser1288=) rs754605516 0.00004
NM_000393.5(COL5A2):c.4443T>C (p.Asp1481=) rs142857608 0.00004
NM_000393.5(COL5A2):c.4455A>G (p.Thr1485=) rs371225266 0.00004
NM_000393.5(COL5A2):c.2846C>G (p.Ser949Cys) rs201961021 0.00003
NM_000393.5(COL5A2):c.3717C>T (p.His1239=) rs769790821 0.00003
NM_000393.5(COL5A2):c.3768G>A (p.Ala1256=) rs767144730 0.00003
NM_000393.5(COL5A2):c.399G>A (p.Pro133=) rs369867930 0.00003
NM_000393.5(COL5A2):c.537G>A (p.Pro179=) rs762891893 0.00003
NM_000393.5(COL5A2):c.1833C>T (p.Pro611=) rs765364009 0.00002
NM_000393.5(COL5A2):c.2550C>A (p.Pro850=) rs375877757 0.00002
NM_000393.5(COL5A2):c.2964G>A (p.Thr988=) rs1060504380 0.00002
NM_000393.5(COL5A2):c.4239C>T (p.Asp1413=) rs529257786 0.00002
NM_000393.5(COL5A2):c.750G>A (p.Pro250=) rs751819198 0.00002
NM_000393.5(COL5A2):c.1188C>T (p.Gly396=) rs863223485 0.00001
NM_000393.5(COL5A2):c.1542T>C (p.Pro514=) rs770622592 0.00001
NM_000393.5(COL5A2):c.1995A>G (p.Arg665=) rs140541824 0.00001
NM_000393.5(COL5A2):c.2322C>A (p.Gly774=) rs549187703 0.00001
NM_000393.5(COL5A2):c.2334C>T (p.Asp778=) rs138457003 0.00001
NM_000393.5(COL5A2):c.2424G>A (p.Pro808=) rs200019093 0.00001
NM_000393.5(COL5A2):c.270G>A (p.Gly90=) rs756103588 0.00001
NM_000393.5(COL5A2):c.2742G>A (p.Ala914=) rs773825862 0.00001
NM_000393.5(COL5A2):c.2841T>A (p.Pro947=) rs372780282 0.00001
NM_000393.5(COL5A2):c.2940T>C (p.Asp980=) rs1685766903 0.00001
NM_000393.5(COL5A2):c.2967C>T (p.Thr989=) rs757271535 0.00001
NM_000393.5(COL5A2):c.2997G>A (p.Gly999=) rs777896102 0.00001
NM_000393.5(COL5A2):c.3006A>T (p.Gly1002=) rs756259584 0.00001
NM_000393.5(COL5A2):c.3195A>G (p.Gly1065=) rs746246121 0.00001
NM_000393.5(COL5A2):c.3252C>T (p.Ala1084=) rs1576490715 0.00001
NM_000393.5(COL5A2):c.3465C>T (p.Gly1155=) rs574148843 0.00001
NM_000393.5(COL5A2):c.3513A>G (p.Pro1171=) rs754108091 0.00001
NM_000393.5(COL5A2):c.3582G>A (p.Gly1194=) rs140022057 0.00001
NM_000393.5(COL5A2):c.4116C>T (p.Phe1372=) rs755092575 0.00001
NM_000393.5(COL5A2):c.4467C>T (p.Phe1489=) rs531204336 0.00001
NM_000393.5(COL5A2):c.528T>A (p.Pro176=) rs751404827 0.00001
NM_000393.5(COL5A2):c.1056T>G (p.Ala352=) rs863223488
NM_000393.5(COL5A2):c.1351T>C (p.Ser451Pro) rs548441536
NM_000393.5(COL5A2):c.1440C>T (p.Gly480=) rs368133226
NM_000393.5(COL5A2):c.1479G>A (p.Pro493=)
NM_000393.5(COL5A2):c.1491C>A (p.Pro497=) rs570269920
NM_000393.5(COL5A2):c.1491C>T (p.Pro497=) rs570269920
NM_000393.5(COL5A2):c.151A>C (p.Arg51=)
NM_000393.5(COL5A2):c.1539T>C (p.Gly513=)
NM_000393.5(COL5A2):c.1728A>C (p.Gly576=)
NM_000393.5(COL5A2):c.1737T>C (p.Gly579=)
NM_000393.5(COL5A2):c.180G>A (p.Gln60=) rs759303686
NM_000393.5(COL5A2):c.1818A>G (p.Gly606=)
NM_000393.5(COL5A2):c.1893A>G (p.Glu631=)
NM_000393.5(COL5A2):c.18G>A (p.Ala6=)
NM_000393.5(COL5A2):c.1923+3dup rs1553515318
NM_000393.5(COL5A2):c.2043T>C (p.Gly681=) rs1553515128
NM_000393.5(COL5A2):c.2118G>A (p.Pro706=)
NM_000393.5(COL5A2):c.2169G>A (p.Gly723=) rs1272808206
NM_000393.5(COL5A2):c.2178A>T (p.Gly726=) rs1307423893
NM_000393.5(COL5A2):c.2181C>T (p.Leu727=)
NM_000393.5(COL5A2):c.2223C>G (p.Gly741=)
NM_000393.5(COL5A2):c.2232C>A (p.Gly744=)
NM_000393.5(COL5A2):c.2253C>G (p.Thr751=) rs928855762
NM_000393.5(COL5A2):c.2283A>G (p.Gln761=)
NM_000393.5(COL5A2):c.2355A>G (p.Lys785=)
NM_000393.5(COL5A2):c.2394T>C (p.Gly798=)
NM_000393.5(COL5A2):c.2412C>T (p.Gly804=)
NM_000393.5(COL5A2):c.261G>T (p.Thr87=)
NM_000393.5(COL5A2):c.2793C>T (p.Pro931=)
NM_000393.5(COL5A2):c.2838C>T (p.Asp946=)
NM_000393.5(COL5A2):c.2871A>G (p.Gly957=)
NM_000393.5(COL5A2):c.2997G>C (p.Gly999=)
NM_000393.5(COL5A2):c.3084A>G (p.Lys1028=) rs774936724
NM_000393.5(COL5A2):c.3093T>C (p.Pro1031=)
NM_000393.5(COL5A2):c.3171C>A (p.Thr1057=)
NM_000393.5(COL5A2):c.3178C>A (p.Arg1060=) rs374549843
NM_000393.5(COL5A2):c.3249T>G (p.Gly1083=)
NM_000393.5(COL5A2):c.3426G>A (p.Lys1142=)
NM_000393.5(COL5A2):c.3432C>T (p.His1144=) rs1685594948
NM_000393.5(COL5A2):c.3465C>A (p.Gly1155=)
NM_000393.5(COL5A2):c.3465C>G (p.Gly1155=)
NM_000393.5(COL5A2):c.3540A>G (p.Pro1180=)
NM_000393.5(COL5A2):c.3675C>T (p.Pro1225=) rs1576486602
NM_000393.5(COL5A2):c.3690A>T (p.Thr1230=)
NM_000393.5(COL5A2):c.3747T>C (p.Pro1249=)
NM_000393.5(COL5A2):c.3816G>A (p.Leu1272=)
NM_000393.5(COL5A2):c.3852C>T (p.Ser1284=)
NM_000393.5(COL5A2):c.3873C>T (p.His1291=)
NM_000393.5(COL5A2):c.3924T>C (p.Ser1308=)
NM_000393.5(COL5A2):c.3975A>G (p.Lys1325=) rs775697182
NM_000393.5(COL5A2):c.4035A>T (p.Pro1345=) rs2153506152
NM_000393.5(COL5A2):c.4122T>C (p.Tyr1374=)
NM_000393.5(COL5A2):c.4140T>A (p.Pro1380=)
NM_000393.5(COL5A2):c.4176T>A (p.Leu1392=)
NM_000393.5(COL5A2):c.4209C>T (p.Tyr1403=)
NM_000393.5(COL5A2):c.4284A>C (p.Ala1428=)
NM_000393.5(COL5A2):c.4308G>A (p.Glu1436=)
NM_000393.5(COL5A2):c.4350C>T (p.Cys1450=)
NM_000393.5(COL5A2):c.4428T>C (p.Asp1476=)
NM_000393.5(COL5A2):c.4464A>G (p.Glu1488=)
NM_000393.5(COL5A2):c.4485A>T (p.Pro1495=)
NM_000393.5(COL5A2):c.4491T>C (p.Cys1497=)
NM_000393.5(COL5A2):c.552C>T (p.Pro184=) rs548352939
NM_000393.5(COL5A2):c.57G>T (p.Gly19=)
NM_000393.5(COL5A2):c.834G>A (p.Val278=)
NM_000393.5(COL5A2):c.861T>G (p.Arg287=) rs1559094497
NM_000393.5(COL5A2):c.894G>C (p.Leu298=) rs186775192
NM_000393.5(COL5A2):c.918T>A (p.Gly306=)
NM_000393.5(COL5A2):c.93G>A (p.Glu31=)
NM_000393.5(COL5A2):c.948A>C (p.Ala316=)
NM_000393.5(COL5A2):c.961-3del rs542134887
NM_000393.5(COL5A2):c.978T>C (p.Thr326=) rs1053327487

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