ClinVar Miner

List of variants in gene COL4A5 studied for not provided

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Total variants: 135
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HGVS dbSNP
NM_000495.4(COL4A5):c.1032+5G>T rs104886315
NM_000495.4(COL4A5):c.1095G>C (p.Gly365=) rs2272945
NM_000495.4(COL4A5):c.1111G>A (p.Gly371Arg) rs878853015
NM_000495.4(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111
NM_000495.4(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891
NM_000495.4(COL4A5):c.1294G>A (p.Gly432Arg) rs281874664
NM_000495.4(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946
NM_000495.4(COL4A5):c.1339+1G>A rs878853114
NM_000495.4(COL4A5):c.146A>G (p.Glu49Gly)
NM_000495.4(COL4A5):c.1508G>T (p.Gly503Val)
NM_000495.4(COL4A5):c.1607G>A (p.Gly536Asp) rs104886125
NM_000495.4(COL4A5):c.1738C>T (p.Gln580Ter) rs281874676
NM_000495.4(COL4A5):c.1779+1G>A
NM_000495.4(COL4A5):c.1844G>A (p.Gly615Glu) rs794727397
NM_000495.4(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_000495.4(COL4A5):c.1992G>T (p.Lys664Asn) rs34077552
NM_000495.4(COL4A5):c.2031_2038delAGGTCTTC (p.Gly678Argfs) rs878853017
NM_000495.4(COL4A5):c.2055T>C (p.Leu685=) rs7884085
NM_000495.4(COL4A5):c.2332G>A (p.Gly778Ser) rs104886174
NM_000495.4(COL4A5):c.2349G>A (p.Pro783=) rs3747408
NM_000495.4(COL4A5):c.2395+1G>C
NM_000495.4(COL4A5):c.2431G>A (p.Gly811Arg) rs104886182
NM_000495.4(COL4A5):c.2510-2A>G
NM_000495.4(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_000495.4(COL4A5):c.2723G>A (p.Gly908Glu) rs878853089
NM_000495.4(COL4A5):c.2804G>A (p.Gly935Asp) rs104886195
NM_000495.4(COL4A5):c.2821G>T (p.Gly941Cys) rs104886196
NM_000495.4(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_000495.4(COL4A5):c.2917+1G>C rs104886371
NM_000495.4(COL4A5):c.2959_2976del18 (p.Asp989_Gly994del) rs104886374
NM_000495.4(COL4A5):c.3017G>A (p.Gly1006Asp)
NM_000495.4(COL4A5):c.3023A>G (p.Lys1008Arg) rs142929745
NM_000495.4(COL4A5):c.3170G>T (p.Gly1057Val)
NM_000495.4(COL4A5):c.3196G>A (p.Gly1066Ser) rs104886219
NM_000495.4(COL4A5):c.3310G>T (p.Gly1104Cys)
NM_000495.4(COL4A5):c.3409G>T (p.Gly1137Cys)
NM_000495.4(COL4A5):c.3410G>A (p.Gly1137Asp) rs1131691795
NM_000495.4(COL4A5):c.3513A>G (p.Gln1171=) rs2273051
NM_000495.4(COL4A5):c.3519T>G (p.Gly1173=) rs61735627
NM_000495.4(COL4A5):c.3527G>A (p.Gly1176Glu) rs886042570
NM_000495.4(COL4A5):c.3685G>A (p.Gly1229Ser)
NM_000495.4(COL4A5):c.3695del (p.Gly1232Valfs) rs1556446657
NM_000495.4(COL4A5):c.3731G>A (p.Gly1244Asp) rs104886261
NM_000495.4(COL4A5):c.3769C>T (p.Gln1257Ter)
NM_000495.4(COL4A5):c.395G>A (p.Gly132Glu)
NM_000495.4(COL4A5):c.4137_4139del (p.Ile1380del)
NM_000495.4(COL4A5):c.4141_4152del (p.Pro1381_Pro1384del)
NM_000495.4(COL4A5):c.4228C>T (p.Arg1410Cys) rs104886270
NM_000495.4(COL4A5):c.4264C>T (p.Arg1422Cys) rs144282156
NM_000495.4(COL4A5):c.4297+1G>C
NM_000495.4(COL4A5):c.4297G>C (p.Gly1433Arg)
NM_000495.4(COL4A5):c.4510+1G>A
NM_000495.4(COL4A5):c.4531delC (p.Arg1511Valfs) rs878853030
NM_000495.4(COL4A5):c.4549C>A (p.Pro1517Thr) rs201220208
NM_000495.4(COL4A5):c.4687C>T (p.Arg1563Ter) rs104886286
NM_000495.4(COL4A5):c.4688G>A (p.Arg1563Gln) rs281874743
NM_000495.4(COL4A5):c.4880C>T (p.Ala1627Val)
NM_000495.4(COL4A5):c.4942T>C (p.Trp1648Arg)
NM_000495.4(COL4A5):c.4946T>G (p.Leu1649Arg) rs104886303
NM_000495.4(COL4A5):c.49_50delCT (p.Leu17Glufs) rs104886427
NM_000495.4(COL4A5):c.5020C>T (p.Arg1674Ter) rs281874753
NM_000495.4(COL4A5):c.5030G>A (p.Arg1677Gln) rs104886308
NM_000495.4(COL4A5):c.530G>A (p.Gly177Asp)
NM_000495.4(COL4A5):c.545_546+2del
NM_000495.4(COL4A5):c.546+1_546+2insT
NM_000495.4(COL4A5):c.572_583del (p.Pro191_Gly195delinsArg)
NM_000495.4(COL4A5):c.584G>T (p.Gly195Val) rs104886061
NM_000495.4(COL4A5):c.593_594insA (p.Pro199Thrfs)
NM_000495.4(COL4A5):c.634delC (p.Pro212Glnfs) rs104886065
NM_000495.4(COL4A5):c.645+2T>C
NM_000495.4(COL4A5):c.646G>A (p.Gly216Arg) rs104886067
NM_000495.4(COL4A5):c.647G>A (p.Gly216Glu)
NM_000495.4(COL4A5):c.665T>G (p.Phe222Cys) rs281874761
NM_000495.4(COL4A5):c.679G>A (p.Gly227Ser) rs1556405916
NM_000495.4(COL4A5):c.698G>C (p.Gly233Ala)
NM_000495.4(COL4A5):c.796C>T (p.Arg266Ter) rs104886071
NM_000495.4(COL4A5):c.858T>C (p.Gly286=) rs183837448
NM_000495.4(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
NM_000495.4(COL4A5):c.89A>G (p.Tyr30Cys) rs150305490
NM_000495.4(COL4A5):c.920G>A (p.Gly307Asp) rs104886082
NM_000495.4(COL4A5):c.935del (p.Pro312Leufs) rs1556407078
NM_000495.4(COL4A5):c.973G>A (p.Gly325Arg) rs104886088
NM_000495.4(COL4A5):c.983del (p.Gly328Valfs) rs1556407684
NM_033380.1(COL4A5):c.1869delT (p.Gly624Valfs) rs1085307808
NM_033380.1(COL4A5):c.2510-1_2523delGGTTTACATGGAATA rs1064794029
NM_033380.1(COL4A5):c.611_612delGC (p.Gly204Alafs) rs281874759
NM_033380.2(COL4A5):c.-25_-8dup rs752443408
NM_033380.2(COL4A5):c.1032+1G>C
NM_033380.2(COL4A5):c.1043G>A (p.Arg348Lys) rs377663039
NM_033380.2(COL4A5):c.1111G>T (p.Gly371Ter) rs878853015
NM_033380.2(COL4A5):c.1258G>A (p.Gly420Arg) rs1556410266
NM_033380.2(COL4A5):c.1340-1G>A
NM_033380.2(COL4A5):c.1570G>T (p.Gly524Cys) rs1170254952
NM_033380.2(COL4A5):c.2019A>T (p.Arg673Ser)
NM_033380.2(COL4A5):c.2024_2029del (p.Gly675_Asp676del)
NM_033380.2(COL4A5):c.2057delC (p.Pro686Glnfs) rs104886167
NM_033380.2(COL4A5):c.2095G>T (p.Gly699Ter)
NM_033380.2(COL4A5):c.2295A>G (p.Pro765=) rs141247183
NM_033380.2(COL4A5):c.2396-1G>T rs886041509
NM_033380.2(COL4A5):c.2414G>A (p.Gly805Glu) rs1556418210
NM_033380.2(COL4A5):c.2509+1G>A rs1556418287
NM_033380.2(COL4A5):c.2538_2539dup (p.Asp847Glyfs) rs1556419800
NM_033380.2(COL4A5):c.2604delC (p.Gly869Glufs) rs1556419850
NM_033380.2(COL4A5):c.2696G>A (p.Gly899Asp) rs281874702
NM_033380.2(COL4A5):c.2722G>T (p.Gly908Ter) rs281874703
NM_033380.2(COL4A5):c.3116G>A (p.Gly1039Asp) rs1556421658
NM_033380.2(COL4A5):c.3148C>T (p.Pro1050Ser) rs143945573
NM_033380.2(COL4A5):c.3238G>C (p.Gly1080Arg) rs1556421731
NM_033380.2(COL4A5):c.3257G>T (p.Gly1086Val)
NM_033380.2(COL4A5):c.3296C>T (p.Ser1099Phe) rs767087695
NM_033380.2(COL4A5):c.3368del (p.Phe1123Serfs)
NM_033380.2(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.2(COL4A5):c.3427G>T (p.Gly1143Cys) rs104886228
NM_033380.2(COL4A5):c.3490G>T (p.Gly1164Cys) rs1057518125
NM_033380.2(COL4A5):c.3496A>G (p.Lys1166Glu) rs1064794446
NM_033380.2(COL4A5):c.3585del (p.Gly1196Aspfs)
NM_033380.2(COL4A5):c.3604G>T (p.Gly1202Cys) rs1057522042
NM_033380.2(COL4A5):c.3659G>T (p.Gly1220Val) rs104886251
NM_033380.2(COL4A5):c.3787C>T (p.Pro1263Ser) rs1012489715
NM_033380.2(COL4A5):c.404G>A (p.Gly135Asp) rs1556403086
NM_033380.2(COL4A5):c.4063del (p.Glu1355Asnfs) rs1556453276
NM_033380.2(COL4A5):c.4106del (p.Gly1369Valfs)
NM_033380.2(COL4A5):c.4475G>T (p.Gly1492Val) rs104886282
NM_033380.2(COL4A5):c.465+1_465+5del rs1556403276
NM_033380.2(COL4A5):c.465+2_465+3dup
NM_033380.2(COL4A5):c.466-13T>A
NM_033380.2(COL4A5):c.4707-1G>C rs1556462917
NM_033380.2(COL4A5):c.4726C>G (p.Pro1576Ala)
NM_033380.2(COL4A5):c.511G>C (p.Gly171Arg) rs1556404027
NM_033380.2(COL4A5):c.574G>T (p.Gly192Trp) rs104886060
NM_033380.2(COL4A5):c.619G>C (p.Gly207Arg)
NM_033380.2(COL4A5):c.687+5G>A rs1556405930
NM_033380.2(COL4A5):c.81G>A (p.Ala27=)
NM_033380.2(COL4A5):c.902G>A (p.Gly301Asp)
NM_033380.2(COL4A5):c.990+1G>T rs1556407701

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