ClinVar Miner

List of variants in gene COL5A2 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 301
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HGVS dbSNP
NC_000002.12:g.189088935_189088938del rs75422763
NM_000393.5(COL5A2):c.*1076G>A rs114123906
NM_000393.5(COL5A2):c.*1165G>A rs13914
NM_000393.5(COL5A2):c.*1331C>G
NM_000393.5(COL5A2):c.*1379A>G rs114330868
NM_000393.5(COL5A2):c.*1400A>G rs12886
NM_000393.5(COL5A2):c.*1402T>G rs11186
NM_000393.5(COL5A2):c.*1669G>A rs76151083
NM_000393.5(COL5A2):c.*1764G>T rs554165132
NM_000393.5(COL5A2):c.*1852T>C rs116255986
NM_000393.5(COL5A2):c.*1904C>T rs75096234
NM_000393.5(COL5A2):c.*1960A>G rs76482660
NM_000393.5(COL5A2):c.*19G>A rs199758990
NM_000393.5(COL5A2):c.*2062G>A rs77821675
NM_000393.5(COL5A2):c.*2131T>A rs113513554
NM_000393.5(COL5A2):c.*298G>A rs7586
NM_000393.5(COL5A2):c.*391A>G rs143552248
NM_000393.5(COL5A2):c.*392T>C rs1131518
NM_000393.5(COL5A2):c.*423C>T rs77413180
NM_000393.5(COL5A2):c.*446G>A rs570467727
NM_000393.5(COL5A2):c.*46C>A rs112739705
NM_000393.5(COL5A2):c.*515C>T rs113311693
NM_000393.5(COL5A2):c.*561T>C rs564981830
NM_000393.5(COL5A2):c.*589_*590del rs200554257
NM_000393.5(COL5A2):c.*639G>A rs73981487
NM_000393.5(COL5A2):c.*798A>G rs116775405
NM_000393.5(COL5A2):c.-16_-15insCTAACCCACATCAT rs765138557
NM_000393.5(COL5A2):c.-34C>T rs114102476
NM_000393.5(COL5A2):c.-37T>G rs780293852
NM_000393.5(COL5A2):c.-50C>T rs183260194
NM_000393.5(COL5A2):c.-96G>T
NM_000393.5(COL5A2):c.1005+10C>T rs767297800
NM_000393.5(COL5A2):c.1006-8G>A rs200405052
NM_000393.5(COL5A2):c.1006-9C>T rs73978832
NM_000393.5(COL5A2):c.1011G>A (p.Pro337=) rs762983955
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.1059+8T>C rs200968159
NM_000393.5(COL5A2):c.1059+9A>G rs776100559
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.5(COL5A2):c.1104+115T>C rs145791814
NM_000393.5(COL5A2):c.1104+116T>C rs73978829
NM_000393.5(COL5A2):c.1104+15T>C rs75486409
NM_000393.5(COL5A2):c.1105-11T>G rs1057523251
NM_000393.5(COL5A2):c.1105-3T>C rs886038289
NM_000393.5(COL5A2):c.1158+14G>A rs1057523022
NM_000393.5(COL5A2):c.1159-13T>C rs756321922
NM_000393.5(COL5A2):c.1159-227A>C rs116853584
NM_000393.5(COL5A2):c.1159-246T>C rs73978826
NM_000393.5(COL5A2):c.1159-7C>A rs377321742
NM_000393.5(COL5A2):c.1179G>A (p.Gly393=) rs1553515878
NM_000393.5(COL5A2):c.117A>T (p.Ile39=) rs1060504379
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=) rs148229627
NM_000393.5(COL5A2):c.1257+12G>A rs759316090
NM_000393.5(COL5A2):c.1258-91T>G rs184264860
NM_000393.5(COL5A2):c.1261G>A (p.Ala421Thr) rs200839338
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000393.5(COL5A2):c.1302+9T>C rs1199559237
NM_000393.5(COL5A2):c.1303-16T>A rs1057524650
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.1400C>T (p.Pro467Leu) rs115570272
NM_000393.5(COL5A2):c.1440C>T (p.Gly480=) rs368133226
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966
NM_000393.5(COL5A2):c.1455+6G>A rs113512079
NM_000393.5(COL5A2):c.1455+6G>T rs113512079
NM_000393.5(COL5A2):c.1455+6del rs763475800
NM_000393.5(COL5A2):c.1456-10T>C rs918840882
NM_000393.5(COL5A2):c.1491C>T (p.Pro497=) rs570269920
NM_000393.5(COL5A2):c.150C>T (p.Asn50=) rs1559108847
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101
NM_000393.5(COL5A2):c.153G>A (p.Arg51=) rs1057523986
NM_000393.5(COL5A2):c.1542T>C (p.Pro514=) rs770622592
NM_000393.5(COL5A2):c.1563+217C>G rs115184225
NM_000393.5(COL5A2):c.1563+5A>G rs777118100
NM_000393.5(COL5A2):c.1617+9G>T rs186490845
NM_000393.5(COL5A2):c.1618-17G>A rs1272843185
NM_000393.5(COL5A2):c.1618-19C>G rs189970491
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp) rs145258293
NM_000393.5(COL5A2):c.1701G>A (p.Gly567=) rs1576503230
NM_000393.5(COL5A2):c.1716+12G>A rs745767713
NM_000393.5(COL5A2):c.1716+13C>G rs779517028
NM_000393.5(COL5A2):c.1716+7A>G rs1057520896
NM_000393.5(COL5A2):c.1716+9A>G rs201934598
NM_000393.5(COL5A2):c.1717-86A>G rs189980880
NM_000393.5(COL5A2):c.1738G>A (p.Val580Ile) rs771004951
NM_000393.5(COL5A2):c.1770+287G>A rs73978820
NM_000393.5(COL5A2):c.1776G>A (p.Ala592=) rs773332771
NM_000393.5(COL5A2):c.1812C>T (p.Ser604=) rs1576502365
NM_000393.5(COL5A2):c.1833C>T (p.Pro611=) rs765364009
NM_000393.5(COL5A2):c.186T>C (p.Cys62=) rs142832916
NM_000393.5(COL5A2):c.1923+11A>G rs368776400
NM_000393.5(COL5A2):c.1923+3dup rs1553515318
NM_000393.5(COL5A2):c.1923+8T>C rs191193125
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046
NM_000393.5(COL5A2):c.1977+12T>C rs202204374
NM_000393.5(COL5A2):c.1977+12T>G rs202204374
NM_000393.5(COL5A2):c.1977+61G>A rs79568088
NM_000393.5(COL5A2):c.1977+6T>A rs863223486
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.5(COL5A2):c.1995A>G (p.Arg665=) rs140541824
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200
NM_000393.5(COL5A2):c.2032-7G>A rs141571092
NM_000393.5(COL5A2):c.2032-8T>C rs1576500695
NM_000393.5(COL5A2):c.2043T>C (p.Gly681=) rs1553515128
NM_000393.5(COL5A2):c.204C>A (p.Ala68=) rs1553519038
NM_000393.5(COL5A2):c.2086-23dup rs5837121
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=) rs376612765
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.2229+59G>A rs143651488
NM_000393.5(COL5A2):c.2230-16T>A rs375334470
NM_000393.5(COL5A2):c.2230-197G>A rs73978814
NM_000393.5(COL5A2):c.2230-255T>C rs115760110
NM_000393.5(COL5A2):c.2230-54A>G rs577663975
NM_000393.5(COL5A2):c.228C>T (p.Cys76=) rs564136480
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969
NM_000393.5(COL5A2):c.2298A>G (p.Glu766=) rs369130743
NM_000393.5(COL5A2):c.2334C>T (p.Asp778=) rs138457003
NM_000393.5(COL5A2):c.2337+143A>G rs73978813
NM_000393.5(COL5A2):c.2337+8C>T rs999144463
NM_000393.5(COL5A2):c.2338-24A>G rs73978812
NM_000393.5(COL5A2):c.2338-6T>C rs375291199
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) rs35860166
NM_000393.5(COL5A2):c.2392-18T>C rs746722538
NM_000393.5(COL5A2):c.2392-41C>T rs114959831
NM_000393.5(COL5A2):c.2392-4A>G rs758314268
NM_000393.5(COL5A2):c.2408T>C (p.Leu803Ser) rs149737825
NM_000393.5(COL5A2):c.2423C>T (p.Pro808Leu) rs575864379
NM_000393.5(COL5A2):c.2424G>A (p.Pro808=) rs200019093
NM_000393.5(COL5A2):c.2446-84A>G rs73978810
NM_000393.5(COL5A2):c.2481T>C (p.Pro827=) rs749675749
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.2500-17T>C rs530643338
NM_000393.5(COL5A2):c.2511T>C (p.Gly837=) rs1192759045
NM_000393.5(COL5A2):c.2544C>T (p.Ala848=) rs370774253
NM_000393.5(COL5A2):c.2553+52A>G rs75502372
NM_000393.5(COL5A2):c.2554-14A>G rs142429770
NM_000393.5(COL5A2):c.2554-5T>C rs373495598
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596
NM_000393.5(COL5A2):c.2634A>G (p.Gln878=) rs370304175
NM_000393.5(COL5A2):c.263C>A (p.Pro88His) rs149877855
NM_000393.5(COL5A2):c.2661+13G>T rs534626192
NM_000393.5(COL5A2):c.270G>A (p.Gly90=) rs756103588
NM_000393.5(COL5A2):c.2712G>A (p.Pro904=) rs372869641
NM_000393.5(COL5A2):c.2715+16G>A rs774654781
NM_000393.5(COL5A2):c.2715+213T>C rs144317055
NM_000393.5(COL5A2):c.2715+42C>A rs73978809
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val) rs201486858
NM_000393.5(COL5A2):c.2769+10C>T rs777299355
NM_000393.5(COL5A2):c.2770-15del rs577038385
NM_000393.5(COL5A2):c.2770-190G>A rs117025177
NM_000393.5(COL5A2):c.2770-20T>G rs1553514295
NM_000393.5(COL5A2):c.2770-34G>T rs73978807
NM_000393.5(COL5A2):c.2770-4C>T rs1576494559
NM_000393.5(COL5A2):c.2770-6T>C rs770409954
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388
NM_000393.5(COL5A2):c.2829T>C (p.Leu943=) rs1576494477
NM_000393.5(COL5A2):c.2841T>A (p.Pro947=) rs372780282
NM_000393.5(COL5A2):c.2852G>A (p.Gly951Glu) rs772448543
NM_000393.5(COL5A2):c.2854C>T (p.Arg952Cys) rs199530997
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.2895A>G (p.Pro965=) rs760946138
NM_000393.5(COL5A2):c.2931+11C>T rs184002749
NM_000393.5(COL5A2):c.2932-162G>A rs115735575
NM_000393.5(COL5A2):c.2943C>T (p.Gly981=) rs771950850
NM_000393.5(COL5A2):c.2947C>T (p.Pro983Ser) rs141644853
NM_000393.5(COL5A2):c.2964G>A (p.Thr988=) rs1060504380
NM_000393.5(COL5A2):c.2967C>T (p.Thr989=) rs757271535
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=) rs201299226
NM_000393.5(COL5A2):c.3006A>T (p.Gly1002=) rs756259584
NM_000393.5(COL5A2):c.3021C>T (p.Pro1007=) rs143318792
NM_000393.5(COL5A2):c.302G>A (p.Gly101Glu)
NM_000393.5(COL5A2):c.3039+15C>A rs114619770
NM_000393.5(COL5A2):c.3039+15C>T rs114619770
NM_000393.5(COL5A2):c.3039G>A (p.Ala1013=) rs751945982
NM_000393.5(COL5A2):c.3040-190G>A rs115398478
NM_000393.5(COL5A2):c.3040-40A>G rs114502556
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756
NM_000393.5(COL5A2):c.3119A>G (p.Asn1040Ser) rs773168254
NM_000393.5(COL5A2):c.3148-216A>G rs115536167
NM_000393.5(COL5A2):c.3162T>C (p.Asn1054=) rs769755441
NM_000393.5(COL5A2):c.3178C>A (p.Arg1060=) rs374549843
NM_000393.5(COL5A2):c.3199C>T (p.Arg1067Cys)
NM_000393.5(COL5A2):c.3201+14C>T rs368713290
NM_000393.5(COL5A2):c.322+18C>G rs201708256
NM_000393.5(COL5A2):c.322+8T>C rs372227642
NM_000393.5(COL5A2):c.3222G>A (p.Gly1074=) rs149574060
NM_000393.5(COL5A2):c.323-15C>G rs766670107
NM_000393.5(COL5A2):c.323-9T>A rs1553518634
NM_000393.5(COL5A2):c.324T>C (p.Gly108=) rs201881801
NM_000393.5(COL5A2):c.3252C>T (p.Ala1084=) rs1576490715
NM_000393.5(COL5A2):c.3309+100C>T rs79111113
NM_000393.5(COL5A2):c.3309+107G>T rs117588489
NM_000393.5(COL5A2):c.3309+16A>G rs369424272
NM_000393.5(COL5A2):c.3309+6G>T rs775681859
NM_000393.5(COL5A2):c.3309+7A>G rs1553513652
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395
NM_000393.5(COL5A2):c.3348G>A (p.Gly1116=) rs1553513577
NM_000393.5(COL5A2):c.3364-17C>T rs201720941
NM_000393.5(COL5A2):c.337-212dup rs143135434
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn) rs199802059
NM_000393.5(COL5A2):c.33C>T (p.Leu11=) rs140108893
NM_000393.5(COL5A2):c.3407G>A (p.Arg1136Gln) rs562950263
NM_000393.5(COL5A2):c.3447T>C (p.Gly1149=) rs1576488965
NM_000393.5(COL5A2):c.3471+8A>T rs367643805
NM_000393.5(COL5A2):c.3472-16T>C rs1057522404
NM_000393.5(COL5A2):c.3513A>G (p.Pro1171=) rs754108091
NM_000393.5(COL5A2):c.3567C>A (p.Asn1189Lys) rs745845130
NM_000393.5(COL5A2):c.3570T>C (p.Pro1190=) rs1553513205
NM_000393.5(COL5A2):c.3582G>A (p.Gly1194=) rs140022057
NM_000393.5(COL5A2):c.3675C>T (p.Pro1225=) rs1576486602
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000393.5(COL5A2):c.369+20T>A rs1057523292
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596
NM_000393.5(COL5A2):c.370-16C>T rs148220961
NM_000393.5(COL5A2):c.3705T>C (p.Asp1235=) rs1057524370
NM_000393.5(COL5A2):c.3717C>T (p.His1239=) rs769790821
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525
NM_000393.5(COL5A2):c.3728G>A (p.Ser1243Asn) rs140851866
NM_000393.5(COL5A2):c.3756T>C (p.Thr1252=) rs1576486483
NM_000393.5(COL5A2):c.3791C>T (p.Thr1264Met) rs762902468
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=) rs148795690
NM_000393.5(COL5A2):c.3855C>T (p.Pro1285=) rs199904322
NM_000393.5(COL5A2):c.3864G>A (p.Ser1288=) rs754605516
NM_000393.5(COL5A2):c.3891T>C (p.Asp1297=) rs886038290
NM_000393.5(COL5A2):c.3925+34G>A rs372307420
NM_000393.5(COL5A2):c.3925+37G>T rs55749146
NM_000393.5(COL5A2):c.3926-25G>C rs72902319
NM_000393.5(COL5A2):c.3969A>C (p.Ala1323=) rs1131429
NM_000393.5(COL5A2):c.3975A>G (p.Lys1325=) rs775697182
NM_000393.5(COL5A2):c.399G>A (p.Pro133=) rs369867930
NM_000393.5(COL5A2):c.403-3T>C rs369733690
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583
NM_000393.5(COL5A2):c.4113+16del rs779762130
NM_000393.5(COL5A2):c.4114-11T>C rs587780908
NM_000393.5(COL5A2):c.4114-17A>G rs778711548
NM_000393.5(COL5A2):c.4114-18_4114-17del rs1440458273
NM_000393.5(COL5A2):c.4114-20A>G rs1057523545
NM_000393.5(COL5A2):c.4116C>T (p.Phe1372=) rs755092575
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.4200C>T (p.Asn1400=) rs979486002
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616
NM_000393.5(COL5A2):c.4251G>A (p.Lys1417=) rs965891508
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val) rs141777954
NM_000393.5(COL5A2):c.4332C>T (p.Ile1444=) rs138837670
NM_000393.5(COL5A2):c.4333G>A (p.Val1445Ile) rs762653511
NM_000393.5(COL5A2):c.4353+8C>G rs1057523735
NM_000393.5(COL5A2):c.4354-137T>C rs56339059
NM_000393.5(COL5A2):c.4368T>C (p.Asn1456=) rs1576482924
NM_000393.5(COL5A2):c.4383C>G (p.Val1461=) rs368234550
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.4409C>T (p.Ala1470Val) rs140109751
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.4470C>T (p.Gly1490=) rs142895373
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu) rs527433112
NM_000393.5(COL5A2):c.457-59G>A rs79251854
NM_000393.5(COL5A2):c.519A>C (p.Pro173=) rs1553517803
NM_000393.5(COL5A2):c.528T>A (p.Pro176=) rs751404827
NM_000393.5(COL5A2):c.567+17G>T rs780672109
NM_000393.5(COL5A2):c.567+7T>C rs755666206
NM_000393.5(COL5A2):c.568-10G>A rs58106884
NM_000393.5(COL5A2):c.568-15A>G rs1057522247
NM_000393.5(COL5A2):c.570G>A (p.Pro190=) rs139666335
NM_000393.5(COL5A2):c.645+108C>T rs115949351
NM_000393.5(COL5A2):c.744+18A>G rs373820975
NM_000393.5(COL5A2):c.744+9C>T rs1576516888
NM_000393.5(COL5A2):c.745-13G>A rs145442880
NM_000393.5(COL5A2):c.745-4T>C rs781426004
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.798+184C>T rs57484527
NM_000393.5(COL5A2):c.798+43C>T rs58624621
NM_000393.5(COL5A2):c.799-6A>G rs111586240
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu) rs540573303
NM_000393.5(COL5A2):c.852+14C>T rs56310996
NM_000393.5(COL5A2):c.853-13G>A rs1553516867
NM_000393.5(COL5A2):c.853-89T>C rs114280344
NM_000393.5(COL5A2):c.870T>C (p.Pro290=) rs139656817
NM_000393.5(COL5A2):c.894G>C (p.Leu298=) rs186775192
NM_000393.5(COL5A2):c.906+10A>T rs776578452
NM_000393.5(COL5A2):c.906+12C>G rs1057521955
NM_000393.5(COL5A2):c.906+14A>G rs768645507
NM_000393.5(COL5A2):c.906+28A>G rs146340989
NM_000393.5(COL5A2):c.906+9A>G rs761662868
NM_000393.5(COL5A2):c.907-5C>A rs756538217
NM_000393.5(COL5A2):c.961-14T>C rs199880428
NM_000393.5(COL5A2):c.961-3del rs542134887
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474
NM_000393.5(COL5A2):c.98-12T>G rs117917418
NM_000393.5(COL5A2):c.98-13T>A rs376487446

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