ClinVar Miner

List of variants in gene COL4A5 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 237
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.1165+298C>A rs28549139 0.38799
NM_033380.3(COL4A5):c.2041+65A>G rs28497884 0.23888
NM_033380.3(COL4A5):c.1033-72C>T rs2272944 0.23733
NM_033380.3(COL4A5):c.609+21T>C rs6622333 0.18370
NM_033380.3(COL4A5):c.3513A>G (p.Gln1171=) rs2273051 0.14310
NM_033380.3(COL4A5):c.3553+42T>C rs28465565 0.14237
NM_033380.3(COL4A5):c.2395+2886C>T rs60033988 0.11153
NM_033380.3(COL4A5):c.3107-100G>A rs3761615 0.11106
NM_033380.3(COL4A5):c.2509+145T>A rs2064379 0.11102
NM_033380.3(COL4A5):c.3016+176T>C rs28521478 0.11079
NM_033380.3(COL4A5):c.991-196C>T rs61336862 0.11076
NM_033380.3(COL4A5):c.2918-168G>A rs28548454 0.11073
NM_033380.3(COL4A5):c.2349G>A (p.Pro783=) rs3747408 0.11046
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
NM_033380.3(COL4A5):c.2395+3072A>G rs56760052 0.11015
NM_033380.3(COL4A5):c.610-229C>T rs28452853 0.10975
NM_033380.3(COL4A5):c.2055T>C (p.Leu685=) rs7884085 0.10905
NM_033380.3(COL4A5):c.81+128T>C rs3747407 0.10674
NM_033380.3(COL4A5):c.1780-247G>A rs2272947 0.10306
NM_033380.3(COL4A5):c.1095G>C (p.Gly365=) rs2272945 0.10302
NM_033380.3(COL4A5):c.4293C>T (p.Asp1431=) rs61746140 0.10149
NM_033380.3(COL4A5):c.610-305T>A rs28410216 0.09880
NM_033380.3(COL4A5):c.2768-11A>G rs1006269 0.09324
NM_033380.3(COL4A5):c.82-212C>T rs16985514 0.07983
NM_033380.3(COL4A5):c.2245-144C>T rs73528321 0.07932
NM_033380.3(COL4A5):c.3808+24C>T rs866695892 0.05325
NM_033380.3(COL4A5):c.3519T>G (p.Gly1173=) rs61735627 0.03239
NM_033380.3(COL4A5):c.3374-274T>C rs113655816 0.03234
NM_033380.3(COL4A5):c.4529-2383T>C rs57661241 0.01754
NM_033380.3(COL4A5):c.4216+228T>A rs28650252 0.01683
NM_033380.3(COL4A5):c.141+257A>G rs145783977 0.01319
NM_033380.3(COL4A5):c.1033-298G>A rs143654988 0.01314
NM_033380.3(COL4A5):c.276+69T>C rs149638471 0.01263
NM_033380.3(COL4A5):c.3373+137A>C rs56253633 0.01063
NM_033380.3(COL4A5):c.3790+126C>G rs185018794 0.00749
NM_033380.3(COL4A5):c.1992G>T (p.Lys664Asn) rs34077552 0.00745
NM_033380.3(COL4A5):c.1165+198G>A rs113710904 0.00740
NM_033380.3(COL4A5):c.3942+257C>A rs148458420 0.00726
NM_033380.3(COL4A5):c.3107-97G>C rs3761616 0.00723
NM_033380.3(COL4A5):c.1949-188T>C rs112610488 0.00720
NM_033380.3(COL4A5):c.3790+111A>G rs28717046 0.00717
NM_033380.3(COL4A5):c.385-97G>A rs111978148 0.00716
NM_033380.3(COL4A5):c.4707-36C>A rs28446657 0.00711
NM_033380.3(COL4A5):c.2395+3071T>A rs751073124 0.00703
NM_033380.3(COL4A5):c.781-80T>C rs145275942 0.00683
NM_033380.3(COL4A5):c.2510-196T>A rs141684133 0.00605
NM_033380.3(COL4A5):c.3246+131C>G rs774675454 0.00602
NM_033380.3(COL4A5):c.1423+199C>T rs113378134 0.00597
NM_033380.3(COL4A5):c.232-17A>C rs111438962 0.00594
NM_033380.3(COL4A5):c.610-263T>C rs111678408 0.00593
NM_033380.3(COL4A5):c.780+262del rs200433454 0.00525
NM_033380.3(COL4A5):c.3791-204G>A rs139199691 0.00499
NM_033380.3(COL4A5):c.3808+205A>G rs145950010 0.00454
NM_033380.3(COL4A5):c.3791-333A>G rs191517623 0.00449
NM_033380.3(COL4A5):c.4528+2497C>T rs189145855 0.00445
NM_033380.3(COL4A5):c.385-102A>G rs190645082 0.00419
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891 0.00418
NM_033380.3(COL4A5):c.3247-329T>G rs145522889 0.00417
NM_033380.3(COL4A5):c.3942+59G>C rs73636580 0.00343
NM_033380.3(COL4A5):c.3553+201C>A rs193083174 0.00341
NM_033380.3(COL4A5):c.4223C>G (p.Thr1408Ser) rs151278542 0.00294
NM_033380.3(COL4A5):c.3373+36T>C rs112145659 0.00209
NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser) rs143945573 0.00155
NM_033380.3(COL4A5):c.891+50G>A rs139844632 0.00133
NM_033380.3(COL4A5):c.3791-230C>T rs187209704 0.00122
NM_033380.3(COL4A5):c.909T>C (p.Asp303=) rs144586397 0.00122
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735 0.00119
NM_033380.3(COL4A5):c.4822-47A>G rs112292893 0.00119
NM_033380.3(COL4A5):c.2396-44T>G rs190497402 0.00094
NM_033380.3(COL4A5):c.4217-30A>G rs199782398 0.00091
NM_033380.3(COL4A5):c.3799+18A>G rs201371556 0.00065
NM_033380.3(COL4A5):c.1187C>T (p.Pro396Leu) rs113013606 0.00047
NM_033380.3(COL4A5):c.1588-13T>G rs201708502 0.00047
NM_033380.3(COL4A5):c.2768-10T>C rs370284884 0.00038
NM_033380.3(COL4A5):c.2216C>A (p.Pro739His) rs201123438 0.00037
NM_033380.3(COL4A5):c.4353A>T (p.Gly1451=) rs146884759 0.00028
NM_033380.3(COL4A5):c.3023A>G (p.Lys1008Arg) rs142929745 0.00027
NM_033380.3(COL4A5):c.3771A>G (p.Gln1257=) rs148046007 0.00025
NM_033380.3(COL4A5):c.2979T>G (p.Pro993=) rs41306255 0.00024
NM_033380.3(COL4A5):c.3296C>T (p.Ser1099Phe) rs767087695 0.00021
NM_033380.3(COL4A5):c.4015+5T>C rs190856675 0.00020
NM_033380.3(COL4A5):c.1275C>T (p.Asp425=) rs144674397 0.00017
NM_033380.3(COL4A5):c.2017A>G (p.Arg673Gly) rs200348997 0.00017
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00017
NM_033380.3(COL4A5):c.3029A>G (p.Asn1010Ser) rs151077921 0.00015
NM_033380.3(COL4A5):c.3107-11A>T rs190579028 0.00015
NM_033380.3(COL4A5):c.880C>T (p.Pro294Ser) rs374201703 0.00015
NM_033380.3(COL4A5):c.2571A>G (p.Gly857=) rs41311553 0.00012
NM_033380.3(COL4A5):c.319C>T (p.Pro107Ser) rs182634806 0.00012
NM_033380.3(COL4A5):c.488T>C (p.Met163Thr) rs142503631 0.00012
NM_033380.3(COL4A5):c.4072C>A (p.Leu1358Ile) rs143020337 0.00011
NM_033380.3(COL4A5):c.1768A>G (p.Lys590Glu) rs368137679 0.00008
NM_033380.3(COL4A5):c.2286A>G (p.Pro762=) rs369726425 0.00008
NM_033380.3(COL4A5):c.2572C>A (p.Pro858Thr) rs147220200 0.00008
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys) rs104886270 0.00008
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys) rs150305490 0.00008
NM_033380.3(COL4A5):c.1813C>A (p.Pro605Thr) rs781016371 0.00007
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val) rs747614562 0.00007
NM_033380.3(COL4A5):c.3960G>A (p.Pro1320=) rs752288966 0.00007
NM_033380.3(COL4A5):c.646-6C>T rs200151467 0.00007
NM_033380.3(COL4A5):c.3923A>G (p.Gln1308Arg) rs104886399 0.00006
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_033380.3(COL4A5):c.4309C>G (p.Gln1437Glu) rs143778018 0.00005
NM_033380.3(COL4A5):c.4414C>T (p.Arg1472Cys) rs746184634 0.00005
NM_033380.3(COL4A5):c.1043G>A (p.Arg348Lys) rs377663039 0.00004
NM_033380.3(COL4A5):c.271A>G (p.Ile91Val) rs919113147 0.00004
NM_033380.3(COL4A5):c.3955C>T (p.Arg1319Trp) rs138903372 0.00004
NM_033380.3(COL4A5):c.2882G>T (p.Gly961Val) rs768478427 0.00003
NM_033380.3(COL4A5):c.2998G>A (p.Gly1000Arg) rs2067110688 0.00003
NM_033380.3(COL4A5):c.2395+4T>C rs774352105 0.00002
NM_033380.3(COL4A5):c.3493G>A (p.Glu1165Lys) rs771538814 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111 0.00001
NM_033380.3(COL4A5):c.2516A>G (p.His839Arg) rs1272041306 0.00001
NM_033380.3(COL4A5):c.2865G>A (p.Met955Ile) rs1350078739 0.00001
NM_033380.3(COL4A5):c.3084C>T (p.Thr1028=) rs141043288 0.00001
NM_033380.3(COL4A5):c.3095T>C (p.Met1032Thr) rs754487739 0.00001
NM_033380.3(COL4A5):c.3141T>C (p.Ser1047=) rs1350852221 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_033380.3(COL4A5):c.3878C>T (p.Pro1293Leu) rs1397121500 0.00001
NM_033380.3(COL4A5):c.4315+1G>A rs587776403 0.00001
NM_033380.3(COL4A5):c.4693C>G (p.Pro1565Ala) rs104886295 0.00001
GRCh38/hg38 Xq22.3(chrX:108447982-108538433)x3
NM_033380.3(COL4A5):c.-25_-8dup rs752443408
NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp) rs104886093
NM_033380.3(COL4A5):c.1033-15del rs104886089
NM_033380.3(COL4A5):c.1033-6A>G rs869025330
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter) rs104886094
NM_033380.3(COL4A5):c.1165+241del rs202217066
NM_033380.3(COL4A5):c.1267G>T (p.Gly423Ter)
NM_033380.3(COL4A5):c.1294G>A (p.Gly432Arg) rs281874664
NM_033380.3(COL4A5):c.1424-20T>A rs281874668
NM_033380.3(COL4A5):c.1570G>T (p.Gly524Cys) rs1170254952
NM_033380.3(COL4A5):c.1612C>T (p.Pro538Ser) rs2147810008
NM_033380.3(COL4A5):c.1779+1G>A rs104886337
NM_033380.3(COL4A5):c.1780-2A>G
NM_033380.3(COL4A5):c.1808G>T (p.Gly603Val) rs104886133
NM_033380.3(COL4A5):c.1861G>A (p.Gly621Ser) rs104886141
NM_033380.3(COL4A5):c.1869del (p.Gly624fs) rs1085307808
NM_033380.3(COL4A5):c.1890A>G (p.Pro630=) rs2147813686
NM_033380.3(COL4A5):c.1948+168del rs200584982
NM_033380.3(COL4A5):c.1948+216C>A rs143000039
NM_033380.3(COL4A5):c.1972A>G (p.Thr658Ala)
NM_033380.3(COL4A5):c.2002C>T (p.Pro668Ser) rs2147819433
NM_033380.3(COL4A5):c.2041+59_2041+61del rs61506795
NM_033380.3(COL4A5):c.2041+60_2041+61del rs61506795
NM_033380.3(COL4A5):c.2041+61del rs61506795
NM_033380.3(COL4A5):c.2041+61dup rs61506795
NM_033380.3(COL4A5):c.2057del (p.Pro686fs) rs104886167
NM_033380.3(COL4A5):c.2135C>G (p.Pro712Arg)
NM_033380.3(COL4A5):c.2180C>G (p.Pro727Arg) rs753005152
NM_033380.3(COL4A5):c.221G>T (p.Arg74Leu) rs137930367
NM_033380.3(COL4A5):c.2228G>A (p.Gly743Asp) rs104886166
NM_033380.3(COL4A5):c.2244+196C>A rs866710848
NM_033380.3(COL4A5):c.2244+1G>T rs281874688
NM_033380.3(COL4A5):c.2244+214_2244+216del rs762022225
NM_033380.3(COL4A5):c.2244+215_2244+216del rs762022225
NM_033380.3(COL4A5):c.2244+215_2244+216dup rs762022225
NM_033380.3(COL4A5):c.2244+216del rs762022225
NM_033380.3(COL4A5):c.2244+216dup rs762022225
NM_033380.3(COL4A5):c.2245-231dup rs34196456
NM_033380.3(COL4A5):c.2395+213T>G rs28379540
NM_033380.3(COL4A5):c.2396-1G>T rs886041509
NM_033380.3(COL4A5):c.2414G>A (p.Gly805Glu) rs1556418210
NM_033380.3(COL4A5):c.2500G>C (p.Gly834Arg) rs281874696
NM_033380.3(COL4A5):c.2509+98A>G rs143647223
NM_033380.3(COL4A5):c.2510-1_2523del rs1064794029
NM_033380.3(COL4A5):c.2604del (p.Gly869fs) rs1556419850
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.2660G>T (p.Gly887Val) rs104886201
NM_033380.3(COL4A5):c.2722G>T (p.Gly908Ter) rs281874703
NM_033380.3(COL4A5):c.2958_2975del (p.Asp989_Gly994del) rs1556421106
NM_033380.3(COL4A5):c.3016+230del rs200028646
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser) rs104886210
NM_033380.3(COL4A5):c.3107G>A (p.Gly1036Glu) rs104886212
NM_033380.3(COL4A5):c.3319G>A (p.Gly1107Arg) rs104886225
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp) rs1131691795
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.3457G>C (p.Gly1153Arg)
NM_033380.3(COL4A5):c.3490G>T (p.Gly1164Cys) rs1057518125
NM_033380.3(COL4A5):c.3496A>G (p.Lys1166Glu) rs1064794446
NM_033380.3(COL4A5):c.3530C>G (p.Pro1177Arg) rs759897999
NM_033380.3(COL4A5):c.3538C>T (p.Gln1180Ter) rs104886241
NM_033380.3(COL4A5):c.3554-5G>C rs1057522041
NM_033380.3(COL4A5):c.3604G>T (p.Gly1202Cys) rs1057522042
NM_033380.3(COL4A5):c.3617A>G (p.Asp1206Gly) rs2147959019
NM_033380.3(COL4A5):c.364C>G (p.Pro122Ala)
NM_033380.3(COL4A5):c.3659G>T (p.Gly1220Val) rs104886251
NM_033380.3(COL4A5):c.3704G>T (p.Gly1235Val) rs2068130178
NM_033380.3(COL4A5):c.3706C>G (p.Pro1236Ala)
NM_033380.3(COL4A5):c.3808+41_3808+42del rs200814705
NM_033380.3(COL4A5):c.3808+42del rs200814705
NM_033380.3(COL4A5):c.3808+42dup rs200814705
NM_033380.3(COL4A5):c.384+1G>A rs1569488437
NM_033380.3(COL4A5):c.385-987_385-978del rs200438386
NM_033380.3(COL4A5):c.3964C>G (p.Leu1322Val) rs762726134
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys) rs144282156
NM_033380.3(COL4A5):c.4284C>T (p.Arg1428=)
NM_033380.3(COL4A5):c.4303C>T (p.Pro1435Ser)
NM_033380.3(COL4A5):c.4316-11C>A rs369725471
NM_033380.3(COL4A5):c.4393G>A (p.Ala1465Thr) rs2147991378
NM_033380.3(COL4A5):c.4529-345A>G rs1569508899
NM_033380.3(COL4A5):c.4570T>G (p.Phe1524Val) rs2147998401
NM_033380.3(COL4A5):c.4632G>T (p.Trp1544Cys)
NM_033380.3(COL4A5):c.4652T>C (p.Met1551Thr) rs1057518146
NM_033380.3(COL4A5):c.4670C>T (p.Pro1557Leu)
NM_033380.3(COL4A5):c.4679G>A (p.Gly1560Asp) rs2147998721
NM_033380.3(COL4A5):c.4705C>T (p.Arg1569Ter) rs104886286
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter) rs281874753
NM_033380.3(COL4A5):c.529G>T (p.Gly177Cys) rs104886056
NM_033380.3(COL4A5):c.547-11C>G rs1287996085
NM_033380.3(COL4A5):c.574G>T (p.Gly192Trp) rs104886060
NM_033380.3(COL4A5):c.584G>T (p.Gly195Val) rs104886061
NM_033380.3(COL4A5):c.609+173_609+176del rs202125234
NM_033380.3(COL4A5):c.611_612del (p.Gly204fs) rs281874759
NM_033380.3(COL4A5):c.639A>G (p.Gly213=) rs2147770243
NM_033380.3(COL4A5):c.665T>G (p.Phe222Cys) rs281874761
NM_033380.3(COL4A5):c.679G>A (p.Gly227Ser) rs1556405916
NM_033380.3(COL4A5):c.687+5G>A rs1556405930
NM_033380.3(COL4A5):c.709C>T (p.Pro237Ser) rs2147771258
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter) rs104886071
NM_033380.3(COL4A5):c.81+74_81+75dup rs59044748
NM_033380.3(COL4A5):c.81+75del rs59044748
NM_033380.3(COL4A5):c.81+75dup rs59044748
NM_033380.3(COL4A5):c.812C>G (p.Pro271Arg) rs2147776169
NM_033380.3(COL4A5):c.82G>A (p.Ala28Thr) rs869025333
NM_033380.3(COL4A5):c.856G>T (p.Gly286Cys)
NM_033380.3(COL4A5):c.874G>A (p.Gly292Arg) rs104886073
NM_033380.3(COL4A5):c.891+37A>G rs2294543
NM_033380.3(COL4A5):c.891+83_891+84insACTT rs3215506
NM_033380.3(COL4A5):c.937-170del rs34190918
NM_033380.3(COL4A5):c.937-170dup rs34190918
NM_033380.3(COL4A5):c.937-171_937-170del rs34190918
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg) rs104886088
NM_033380.3(COL4A5):c.990+1G>T rs1556407701
NM_033380.3(COL4A5):c.991-174C>A rs73526296

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