ClinVar Miner

List of variants in gene COL5A2 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 214
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HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.4354-137T>C rs56339059 0.02624
NM_000393.5(COL5A2):c.3925+37G>T rs55749146 0.02544
NM_000393.5(COL5A2):c.2338-24A>G rs73978812 0.01812
NM_000393.5(COL5A2):c.1770+287G>A rs73978820 0.01786
NM_000393.5(COL5A2):c.2446-84A>G rs73978810 0.01786
NM_000393.5(COL5A2):c.2715+42C>A rs73978809 0.01784
NM_000393.5(COL5A2):c.2932-162G>A rs115735575 0.01548
NM_000393.5(COL5A2):c.2392-41C>T rs114959831 0.01546
NM_000393.5(COL5A2):c.2715+213T>C rs144317055 0.01544
NM_000393.5(COL5A2):c.2337+27T>C rs796525607 0.01406
NM_000393.5(COL5A2):c.*1669G>A rs76151083 0.01378
NM_000393.5(COL5A2):c.*1904C>T rs75096234 0.01358
NM_000393.5(COL5A2):c.3633+107C>T rs111645248 0.01357
NM_000393.5(COL5A2):c.4354-175G>C rs79420523 0.01357
NM_000393.5(COL5A2):c.*1960A>G rs76482660 0.01355
NM_000393.5(COL5A2):c.4354-300A>T rs77944362 0.01353
NM_000393.5(COL5A2):c.4353+304C>T rs76648666 0.01351
NM_000393.5(COL5A2):c.3310-108T>C rs188576882 0.01297
NM_000393.5(COL5A2):c.3926-25G>C rs72902319 0.01277
NM_000393.5(COL5A2):c.3926-139T>C rs149056709 0.01276
NM_000393.5(COL5A2):c.799-202G>A rs115671241 0.01234
NM_000393.5(COL5A2):c.1159-227A>C rs116853584 0.01232
NM_000393.5(COL5A2):c.2770-190G>A rs117025177 0.01232
NM_000393.5(COL5A2):c.457-59G>A rs79251854 0.01231
NM_000393.5(COL5A2):c.*46C>A rs112739705 0.01217
NM_000393.5(COL5A2):c.3309+107G>T rs117588489 0.01202
NM_000393.5(COL5A2):c.906+28A>G rs146340989 0.01144
NM_000393.5(COL5A2):c.1977+61G>A rs79568088 0.01049
NM_000393.5(COL5A2):c.798+43C>T rs58624621 0.01038
NM_000393.5(COL5A2):c.2337+143A>G rs73978813 0.01036
NM_000393.5(COL5A2):c.3148-216A>G rs115536167 0.01031
NM_000393.5(COL5A2):c.798+184C>T rs57484527 0.01021
NM_000393.5(COL5A2):c.2230-197G>A rs73978814 0.01007
NM_000393.5(COL5A2):c.3040-40A>G rs114502556 0.01007
NM_000393.5(COL5A2):c.1159-246T>C rs73978826 0.01006
NM_000393.5(COL5A2):c.1104+116T>C rs73978829 0.01005
NM_000393.5(COL5A2):c.2230-255T>C rs115760110 0.01004
NM_000393.5(COL5A2):c.2770-34G>T rs73978807 0.01000
NM_000393.5(COL5A2):c.2337+62G>T rs116016659 0.00952
NM_000393.5(COL5A2):c.1104+115T>C rs145791814 0.00948
NM_000393.5(COL5A2):c.3040-190G>A rs115398478 0.00876
NM_000393.5(COL5A2):c.2553+88G>A rs75042806 0.00875
NM_000393.5(COL5A2):c.3147+331T>A rs143993989 0.00827
NM_000393.5(COL5A2):c.1563+217C>G rs115184225 0.00790
NM_000393.5(COL5A2):c.853-89T>C rs114280344 0.00786
NM_000393.5(COL5A2):c.645+108C>T rs115949351 0.00783
NM_000393.5(COL5A2):c.403-292C>A rs77535435 0.00782
NM_000393.5(COL5A2):c.369+80T>A rs111674411 0.00780
NM_000393.5(COL5A2):c.1005+200C>T rs116351142 0.00769
NM_000393.5(COL5A2):c.1401+281T>G rs147392450 0.00769
NM_000393.5(COL5A2):c.2130+125T>A rs186186367 0.00769
NM_000393.5(COL5A2):c.1006-69G>C rs151293077 0.00768
NM_000393.5(COL5A2):c.2131-29G>C rs79938750 0.00768
NM_000393.5(COL5A2):c.1402-207T>A rs149453147 0.00717
NM_000393.5(COL5A2):c.3202-62A>G rs146347888 0.00689
NM_000393.5(COL5A2):c.1564-37C>T rs116376785 0.00687
NM_000393.5(COL5A2):c.3309+100C>T rs79111113 0.00687
NM_000393.5(COL5A2):c.1717-86A>G rs189980880 0.00684
NM_000393.5(COL5A2):c.1564-235C>A rs138594699 0.00604
NM_000393.5(COL5A2):c.2229+59G>A rs143651488 0.00574
NM_000393.5(COL5A2):c.3147+46A>G rs13383588 0.00500
NM_000393.5(COL5A2):c.3926-149C>T rs73049467 0.00483
NM_000393.5(COL5A2):c.2769+287T>C rs13405822 0.00481
NM_000393.5(COL5A2):c.*1852T>C rs116255986 0.00479
NM_000393.5(COL5A2):c.2499+37T>C rs13413060 0.00478
NM_000393.5(COL5A2):c.2445+42T>A rs13413296 0.00476
NM_000393.5(COL5A2):c.690+40C>T rs114482825 0.00465
NM_000393.5(COL5A2):c.370-279G>A rs141185549 0.00429
NM_000393.5(COL5A2):c.3201+263G>A rs10196855 0.00414
NM_000393.5(COL5A2):c.369+167A>T rs73051216 0.00410
NM_000393.5(COL5A2):c.2230-54A>G rs577663975 0.00408
NM_000393.5(COL5A2):c.403-304G>A rs13396958 0.00393
NM_000393.5(COL5A2):c.906+90T>C rs10182959 0.00390
NM_000393.5(COL5A2):c.1257+75A>G rs186264260 0.00388
NM_000393.5(COL5A2):c.568-130C>A rs73051207 0.00354
NM_000393.5(COL5A2):c.403-250C>G rs140475457 0.00337
NM_000393.5(COL5A2):c.1257+55C>T rs190737733 0.00322
NM_000393.5(COL5A2):c.2553+52A>G rs75502372 0.00280
NM_000393.5(COL5A2):c.3039+15C>T rs114619770 0.00125
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395 0.00119
NM_000393.5(COL5A2):c.960+35T>C rs75310549 0.00108
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) rs35860166 0.00081
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val) rs141777954 0.00075
NM_000393.5(COL5A2):c.2931+11C>T rs184002749 0.00073
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388 0.00069
NM_000393.5(COL5A2):c.186T>C (p.Cys62=) rs142832916 0.00066
NM_000393.5(COL5A2):c.3021C>T (p.Pro1007=) rs143318792 0.00058
NM_000393.5(COL5A2):c.322+18C>G rs201708256 0.00045
NM_000393.5(COL5A2):c.745-13G>A rs145442880 0.00038
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.2230-16T>A rs375334470 0.00031
NM_000393.5(COL5A2):c.852G>A (p.Pro284=) rs150092345 0.00031
NM_000393.5(COL5A2):c.98-13T>A rs376487446 0.00031
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969 0.00029
NM_000393.5(COL5A2):c.3526-45A>T rs529927639 0.00029
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=) rs376612765 0.00022
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.3925+34G>A rs372307420 0.00014
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=) rs933589600 0.00013
NM_000393.5(COL5A2):c.2634A>G (p.Gln878=) rs370304175 0.00011
NM_000393.5(COL5A2):c.403-3T>C rs369733690 0.00010
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.2895A>G (p.Pro965=) rs760946138 0.00008
NM_000393.5(COL5A2):c.2770-6T>C rs770409954 0.00007
NM_000393.5(COL5A2):c.4383C>G (p.Val1461=) rs368234550 0.00007
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu) rs527433112 0.00007
NM_000393.5(COL5A2):c.1617+9G>T rs186490845 0.00006
NM_000393.5(COL5A2):c.1716+9A>G rs201934598 0.00006
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.376G>A (p.Gly126Ser) rs779153546 0.00006
NM_000393.5(COL5A2):c.567+17G>T rs780672109 0.00006
NM_000393.5(COL5A2):c.906+14A>G rs768645507 0.00006
NM_000393.5(COL5A2):c.1005+10C>T rs767297800 0.00005
NM_000393.5(COL5A2):c.2544C>T (p.Ala848=) rs370774253 0.00005
NM_000393.5(COL5A2):c.3201+14C>T rs368713290 0.00005
NM_000393.5(COL5A2):c.3309+16A>G rs369424272 0.00005
NM_000393.5(COL5A2):c.870T>C (p.Pro290=) rs139656817 0.00005
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.3855C>T (p.Pro1285=) rs199904322 0.00004
NM_000393.5(COL5A2):c.4443T>C (p.Asp1481=) rs142857608 0.00004
NM_000393.5(COL5A2):c.567+7T>C rs755666206 0.00004
NM_000393.5(COL5A2):c.744+18A>G rs373820975 0.00004
NM_000393.5(COL5A2):c.-37T>G rs780293852 0.00003
NM_000393.5(COL5A2):c.1006-8G>A rs200405052 0.00003
NM_000393.5(COL5A2):c.1159-7C>A rs377321742 0.00003
NM_000393.5(COL5A2):c.3040-9C>A rs377334807 0.00003
NM_000393.5(COL5A2):c.1716+13C>G rs779517028 0.00002
NM_000393.5(COL5A2):c.1833C>T (p.Pro611=) rs765364009 0.00002
NM_000393.5(COL5A2):c.2661+13G>T rs534626192 0.00002
NM_000393.5(COL5A2):c.2964G>A (p.Thr988=) rs1060504380 0.00002
NM_000393.5(COL5A2):c.3471+3A>G rs929722223 0.00002
NM_000393.5(COL5A2):c.750G>A (p.Pro250=) rs751819198 0.00002
NM_000393.5(COL5A2):c.799-6A>G rs111586240 0.00002
NM_000393.5(COL5A2):c.906+10A>T rs776578452 0.00002
NM_000393.5(COL5A2):c.1011G>A (p.Pro337=) rs762983955 0.00001
NM_000393.5(COL5A2):c.1158+14G>A rs1057523022 0.00001
NM_000393.5(COL5A2):c.1159-10A>G rs767892138 0.00001
NM_000393.5(COL5A2):c.1159-13T>C rs756321922 0.00001
NM_000393.5(COL5A2):c.1302G>A (p.Thr434=) rs376170776 0.00001
NM_000393.5(COL5A2):c.1303-16T>A rs1057524650 0.00001
NM_000393.5(COL5A2):c.1563+5A>G rs777118100 0.00001
NM_000393.5(COL5A2):c.1618-17G>A rs1272843185 0.00001
NM_000393.5(COL5A2):c.1618-8C>T rs746841809 0.00001
NM_000393.5(COL5A2):c.1716+12G>A rs745767713 0.00001
NM_000393.5(COL5A2):c.2334C>T (p.Asp778=) rs138457003 0.00001
NM_000393.5(COL5A2):c.2392-18T>C rs746722538 0.00001
NM_000393.5(COL5A2):c.2392-4A>G rs758314268 0.00001
NM_000393.5(COL5A2):c.2424G>A (p.Pro808=) rs200019093 0.00001
NM_000393.5(COL5A2):c.2554-5T>C rs373495598 0.00001
NM_000393.5(COL5A2):c.270G>A (p.Gly90=) rs756103588 0.00001
NM_000393.5(COL5A2):c.2715+16G>A rs774654781 0.00001
NM_000393.5(COL5A2):c.2841T>A (p.Pro947=) rs372780282 0.00001
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=) rs201299226 0.00001
NM_000393.5(COL5A2):c.3162T>C (p.Asn1054=) rs769755441 0.00001
NM_000393.5(COL5A2):c.323-15C>G rs766670107 0.00001
NM_000393.5(COL5A2):c.3472-16T>C rs1057522404 0.00001
NM_000393.5(COL5A2):c.4114-17A>G rs778711548 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.-16_-15insCTAACCCACATCAT rs765138557
NM_000393.5(COL5A2):c.-37del rs922043222
NM_000393.5(COL5A2):c.1105-11T>G rs1057523251
NM_000393.5(COL5A2):c.1179G>A (p.Gly393=) rs1553515878
NM_000393.5(COL5A2):c.1257+12G>A rs759316090
NM_000393.5(COL5A2):c.1258-91T>G rs184264860
NM_000393.5(COL5A2):c.1440C>T (p.Gly480=) rs368133226
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.1491C>T (p.Pro497=) rs570269920
NM_000393.5(COL5A2):c.153G>A (p.Arg51=) rs1057523986
NM_000393.5(COL5A2):c.1716+7A>G rs1057520896
NM_000393.5(COL5A2):c.1923+3dup rs1553515318
NM_000393.5(COL5A2):c.1977+12T>C rs202204374
NM_000393.5(COL5A2):c.1977+6T>A rs863223486
NM_000393.5(COL5A2):c.2031+49dup rs369656754
NM_000393.5(COL5A2):c.2031+68del rs111688859
NM_000393.5(COL5A2):c.2032-57T>C rs13416565
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.2392-228A>C rs114497915
NM_000393.5(COL5A2):c.2500-17T>C rs530643338
NM_000393.5(COL5A2):c.2553+5A>T rs371072906
NM_000393.5(COL5A2):c.2769+10C>T rs777299355
NM_000393.5(COL5A2):c.2770-20T>G rs1553514295
NM_000393.5(COL5A2):c.3039+15C>A rs114619770
NM_000393.5(COL5A2):c.3039G>A (p.Ala1013=) rs751945982
NM_000393.5(COL5A2):c.3147+243A>C rs13383366
NM_000393.5(COL5A2):c.323-9T>A rs1553518634
NM_000393.5(COL5A2):c.3310-132CA[13] rs111268949
NM_000393.5(COL5A2):c.337-212dup rs143135434
NM_000393.5(COL5A2):c.3407G>A (p.Arg1136Gln) rs562950263
NM_000393.5(COL5A2):c.3570T>C (p.Pro1190=) rs1553513205
NM_000393.5(COL5A2):c.369+20T>A rs1057523292
NM_000393.5(COL5A2):c.3705T>C (p.Asp1235=) rs1057524370
NM_000393.5(COL5A2):c.4113+16del rs779762130
NM_000393.5(COL5A2):c.4114-18_4114-17del rs1440458273
NM_000393.5(COL5A2):c.4114-20A>G rs1057523545
NM_000393.5(COL5A2):c.4152T>C (p.Ile1384=) rs1685417610
NM_000393.5(COL5A2):c.4353+8C>G rs1057523735
NM_000393.5(COL5A2):c.4368T>C (p.Asn1456=) rs1576482924
NM_000393.5(COL5A2):c.552C>T (p.Pro184=) rs548352939
NM_000393.5(COL5A2):c.568-15A>G rs1057522247
NM_000393.5(COL5A2):c.568-166_568-163del rs75422763
NM_000393.5(COL5A2):c.852+250G>A rs10166867
NM_000393.5(COL5A2):c.853-13G>A rs1553516867
NM_000393.5(COL5A2):c.861T>G (p.Arg287=) rs1559094497
NM_000393.5(COL5A2):c.906+12C>G rs1057521955
NM_000393.5(COL5A2):c.961-3del rs542134887

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