ClinVar Miner

List of variants in gene COL4A5 reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 211
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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.4500A>G (p.Gly1500=) rs145378707 0.00920
NM_033380.3(COL4A5):c.1992G>T (p.Lys664Asn) rs34077552 0.00745
NM_033380.3(COL4A5):c.232-17A>C rs111438962 0.00594
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891 0.00418
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.909T>C (p.Asp303=) rs144586397 0.00122
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735 0.00119
NM_033380.3(COL4A5):c.580A>G (p.Ile194Val) rs145970300 0.00099
NM_033380.3(COL4A5):c.834+8C>A rs201717817 0.00066
NM_033380.3(COL4A5):c.2147-12A>G rs749368555 0.00061
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.2215C>G (p.Pro739Ala) rs104886164 0.00034
NM_033380.3(COL4A5):c.3312T>C (p.Gly1104=) rs140829723 0.00032
NM_033380.3(COL4A5):c.688-11C>T rs201020166 0.00032
NM_033380.3(COL4A5):c.4353A>T (p.Gly1451=) rs146884759 0.00028
NM_033380.3(COL4A5):c.2244+9C>T rs759349551 0.00027
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.2917+18T>C rs376067886 0.00023
NM_033380.3(COL4A5):c.2400T>C (p.Asp800=) rs372505008 0.00021
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.1979C>T (p.Thr660Ile) rs780612276 0.00019
NM_033380.3(COL4A5):c.3374-11C>A rs104886387 0.00018
NM_033380.3(COL4A5):c.1035A>C (p.Val345=) rs780982202 0.00017
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.3943-17T>G rs200247683 0.00014
NM_033380.3(COL4A5):c.4117C>A (p.Gln1373Lys) rs147447379 0.00014
NM_033380.3(COL4A5):c.4476C>T (p.Gly1492=) rs778743553 0.00014
NM_033380.3(COL4A5):c.4567C>A (p.Pro1523Thr) rs201220208 0.00014
NM_033380.3(COL4A5):c.858T>C (p.Gly286=) rs183837448 0.00014
NM_033380.3(COL4A5):c.1032+11T>A rs202140357 0.00013
NM_033380.3(COL4A5):c.3251A>C (p.Glu1084Ala) rs146873772 0.00013
NM_033380.3(COL4A5):c.3958C>T (p.Pro1320Ser) rs754836509 0.00013
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.3736G>T (p.Ala1246Ser) rs372236348 0.00012
NM_033380.3(COL4A5):c.4315+9A>T rs764116323 0.00012
NM_033380.3(COL4A5):c.488T>C (p.Met163Thr) rs142503631 0.00012
NM_033380.3(COL4A5):c.3809-6A>G rs776750939 0.00011
NM_033380.3(COL4A5):c.4072C>A (p.Leu1358Ile) rs143020337 0.00011
NM_033380.3(COL4A5):c.5012C>T (p.Thr1671Met) rs745360151 0.00011
NM_033380.3(COL4A5):c.391C>T (p.Arg131Cys) rs775981205 0.00010
NM_033380.3(COL4A5):c.4087+6A>T rs748429212 0.00010
NM_033380.3(COL4A5):c.4217-6C>T rs764326196 0.00010
NM_033380.3(COL4A5):c.861G>A (p.Glu287=) rs41300173 0.00010
NM_033380.3(COL4A5):c.899C>T (p.Pro300Leu) rs375377003 0.00010
NM_033380.3(COL4A5):c.4741G>T (p.Ala1581Ser) rs151130451 0.00009
NM_033380.3(COL4A5):c.2286A>G (p.Pro762=) rs369726425 0.00008
NM_033380.3(COL4A5):c.3957G>T (p.Arg1319=) rs758920904 0.00008
NM_033380.3(COL4A5):c.4216+10C>T rs759735924 0.00008
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys) rs150305490 0.00008
NM_033380.3(COL4A5):c.1350A>G (p.Ile450Met) rs201481496 0.00007
NM_033380.3(COL4A5):c.1497A>G (p.Pro499=) rs772348542 0.00007
NM_033380.3(COL4A5):c.1813C>A (p.Pro605Thr) rs781016371 0.00007
NM_033380.3(COL4A5):c.3247-10G>A rs369817184 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.1586C>A (p.Pro529Gln) rs758983710 0.00006
NM_033380.3(COL4A5):c.3468T>C (p.His1156=) rs769984503 0.00006
NM_033380.3(COL4A5):c.3923A>G (p.Gln1308Arg) rs104886399 0.00006
NM_033380.3(COL4A5):c.4994+12A>G rs767909575 0.00006
NM_033380.3(COL4A5):c.1584A>G (p.Leu528=) rs370355907 0.00005
NM_033380.3(COL4A5):c.262C>T (p.Pro88Ser) rs773883586 0.00005
NM_033380.3(COL4A5):c.4209C>T (p.Gly1403=) rs752953167 0.00005
NM_033380.3(COL4A5):c.4309C>G (p.Gln1437Glu) rs143778018 0.00005
NM_033380.3(COL4A5):c.4862C>T (p.Ala1621Val) rs572921687 0.00005
NM_033380.3(COL4A5):c.823C>T (p.Arg275Cys) rs376031029 0.00005
NM_033380.3(COL4A5):c.1043G>A (p.Arg348Lys) rs377663039 0.00004
NM_033380.3(COL4A5):c.2363G>A (p.Arg788His) rs763882494 0.00004
NM_033380.3(COL4A5):c.3232C>T (p.Leu1078Phe) rs763614519 0.00004
NM_033380.3(COL4A5):c.4003C>T (p.Pro1335Ser) rs757653472 0.00004
NM_033380.3(COL4A5):c.4643C>T (p.Pro1548Leu) rs771101410 0.00004
NM_033380.3(COL4A5):c.1165+7G>A rs968742014 0.00003
NM_033380.3(COL4A5):c.1339+10A>G rs747003888 0.00003
NM_033380.3(COL4A5):c.1469C>T (p.Ser490Leu) rs764543034 0.00003
NM_033380.3(COL4A5):c.1909C>A (p.Gln637Lys) rs368347660 0.00003
NM_033380.3(COL4A5):c.2520A>G (p.Gly840=) rs372853807 0.00003
NM_033380.3(COL4A5):c.2797C>T (p.Leu933Phe) rs191497639 0.00003
NM_033380.3(COL4A5):c.3580C>A (p.Pro1194Thr) rs778718184 0.00003
NM_033380.3(COL4A5):c.3669C>T (p.Gly1223=) rs765001018 0.00003
NM_033380.3(COL4A5):c.4125C>T (p.Ile1375=) rs139309774 0.00003
NM_033380.3(COL4A5):c.4485C>A (p.Leu1495=) rs765058131 0.00003
NM_033380.3(COL4A5):c.4977T>A (p.Asp1659Glu) rs752044936 0.00003
NM_033380.3(COL4A5):c.993C>A (p.Gly331=) rs777477617 0.00003
NM_033380.3(COL4A5):c.1296G>C (p.Gly432=) rs755291471 0.00002
NM_033380.3(COL4A5):c.1810C>A (p.Pro604Thr) rs183934559 0.00002
NM_033380.3(COL4A5):c.3605-8T>G rs767540874 0.00002
NM_033380.3(COL4A5):c.3605-9C>T rs761899179 0.00002
NM_033380.3(COL4A5):c.366C>T (p.Pro122=) rs778778154 0.00002
NM_033380.3(COL4A5):c.4016-16T>G rs775007873 0.00002
NM_033380.3(COL4A5):c.4316-10G>A rs778775294 0.00002
NM_033380.3(COL4A5):c.4443A>G (p.Gln1481=) rs371136889 0.00002
NM_033380.3(COL4A5):c.5004G>A (p.Gln1668=) rs770835001 0.00002
NM_033380.3(COL4A5):c.213G>A (p.Pro71=) rs764172210 0.00001
NM_033380.3(COL4A5):c.2466A>G (p.Gly822=) rs375746429 0.00001
NM_033380.3(COL4A5):c.3268T>C (p.Tyr1090His) rs200042343 0.00001
NM_033380.3(COL4A5):c.336C>T (p.His112=) rs751706926 0.00001
NM_033380.3(COL4A5):c.3582C>T (p.Pro1194=) rs104886243 0.00001
NM_033380.3(COL4A5):c.361A>G (p.Ile121Val) rs377222743 0.00001
NM_033380.3(COL4A5):c.4028C>T (p.Pro1343Leu) rs751238471 0.00001
NM_033380.3(COL4A5):c.4267G>A (p.Asp1423Asn) rs374994365 0.00001
NM_033380.3(COL4A5):c.779A>G (p.Gln260Arg) rs372889859 0.00001
NM_033380.3(COL4A5):c.90T>C (p.Tyr30=) rs104886047 0.00001
NM_033380.3(COL4A5):c.1032+17T>C
NM_033380.3(COL4A5):c.1032+17del rs761615270
NM_033380.3(COL4A5):c.1032+17dup rs761615270
NM_033380.3(COL4A5):c.1086G>T (p.Gly362=) rs773438026
NM_033380.3(COL4A5):c.1086GTTGCCTGG[1] (p.363LPG[1]) rs765552839
NM_033380.3(COL4A5):c.1165+241del rs202217066
NM_033380.3(COL4A5):c.1166-19T>G
NM_033380.3(COL4A5):c.144A>G (p.Gly48=)
NM_033380.3(COL4A5):c.1587+19A>T
NM_033380.3(COL4A5):c.1948+11del
NM_033380.3(COL4A5):c.1948+168del rs200584982
NM_033380.3(COL4A5):c.1948+894C>T
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.2244+15del
NM_033380.3(COL4A5):c.2244+214_2244+216del rs762022225
NM_033380.3(COL4A5):c.2245-231dup rs34196456
NM_033380.3(COL4A5):c.2389C>T (p.Pro797Ser)
NM_033380.3(COL4A5):c.2395+213T>G rs28379540
NM_033380.3(COL4A5):c.2509+17T>C
NM_033380.3(COL4A5):c.3016+230del rs200028646
NM_033380.3(COL4A5):c.3107-12T>C
NM_033380.3(COL4A5):c.3107-15A>T
NM_033380.3(COL4A5):c.322-12C>T
NM_033380.3(COL4A5):c.322-18T>C
NM_033380.3(COL4A5):c.3246+15A>G
NM_033380.3(COL4A5):c.3357C>A (p.Gly1119=) rs773019423
NM_033380.3(COL4A5):c.33C>T (p.Gly11=)
NM_033380.3(COL4A5):c.3455-17T>A
NM_033380.3(COL4A5):c.3553+20T>C
NM_033380.3(COL4A5):c.3604+19T>A
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.3829C>A (p.Pro1277Thr) rs761470284
NM_033380.3(COL4A5):c.3829C>T (p.Pro1277Ser) rs761470284
NM_033380.3(COL4A5):c.385-987_385-978del rs200438386
NM_033380.3(COL4A5):c.4016-18dup
NM_033380.3(COL4A5):c.4016-9del rs746824408
NM_033380.3(COL4A5):c.406A>G (p.Ser136Gly) rs768580195
NM_033380.3(COL4A5):c.4148C>T (p.Pro1383Leu)
NM_033380.3(COL4A5):c.4247G>A (p.Arg1416His) rs753765957
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys) rs144282156
NM_033380.3(COL4A5):c.4316-11C>T
NM_033380.3(COL4A5):c.4341T>C (p.Pro1447=)
NM_033380.3(COL4A5):c.4529-6T>C rs775079914
NM_033380.3(COL4A5):c.465+12A>T
NM_033380.3(COL4A5):c.4821+14T>A
NM_033380.3(COL4A5):c.4822-152dup rs767171748
NM_033380.3(COL4A5):c.4828A>G (p.Ser1610Gly)
NM_033380.3(COL4A5):c.546+15A>T
NM_033380.3(COL4A5):c.609+173_609+176del rs202125234
NM_033380.3(COL4A5):c.687+16G>C
NM_033380.3(COL4A5):c.780+14G>C
NM_033380.3(COL4A5):c.81+74_81+75dup rs59044748
NM_033380.3(COL4A5):c.81+75dup rs59044748
NM_033380.3(COL4A5):c.834+14G>A
NM_033380.3(COL4A5):c.891+37A>G rs2294543
NM_033380.3(COL4A5):c.891+83_891+84insACTT rs3215506
NM_033380.3(COL4A5):c.892-16del rs775131776
NM_033380.3(COL4A5):c.937-11A>G
NM_033380.3(COL4A5):c.937-170del rs34190918
NM_033380.3(COL4A5):c.937-171_937-170del rs34190918
NM_033380.3(COL4A5):c.990+11dup
NM_033380.3(COL4A5):c.991-174C>A rs73526296

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