ClinVar Miner

List of variants in gene COL4A5 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 256
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HGVS dbSNP gnomAD frequency
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.3023A>G (p.Lys1008Arg) rs142929745 0.00027
NM_033380.3(COL4A5):c.3296C>T (p.Ser1099Phe) rs767087695 0.00021
NM_033380.3(COL4A5):c.880C>T (p.Pro294Ser) rs374201703 0.00015
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.319C>T (p.Pro107Ser) rs182634806 0.00012
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.4898C>T (p.Ala1633Val) rs982188184 0.00006
NM_033380.3(COL4A5):c.3728C>T (p.Pro1243Leu) rs751503027 0.00005
NM_033380.3(COL4A5):c.4414C>T (p.Arg1472Cys) rs746184634 0.00005
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.781-253A>G rs1227389872 0.00004
NM_033380.3(COL4A5):c.796C>G (p.Arg266Gly) rs104886071 0.00004
NM_033380.3(COL4A5):c.2080A>G (p.Ile694Val) rs141392937 0.00003
NM_033380.3(COL4A5):c.2882G>T (p.Gly961Val) rs768478427 0.00003
NM_033380.3(COL4A5):c.829C>T (p.Pro277Ser) rs755102850 0.00003
NM_033380.3(COL4A5):c.2295A>G (p.Pro765=) rs141247183 0.00002
NM_033380.3(COL4A5):c.3493G>A (p.Glu1165Lys) rs771538814 0.00002
NM_033380.3(COL4A5):c.677A>C (p.Lys226Thr) rs991159149 0.00002
NM_033380.3(COL4A5):c.164T>G (p.Leu55Trp) rs779142914 0.00001
NM_033380.3(COL4A5):c.2206G>C (p.Glu736Gln) rs1603292436 0.00001
NM_033380.3(COL4A5):c.2290C>T (p.Leu764Phe) rs2066735216 0.00001
NM_033380.3(COL4A5):c.2509+16A>G rs1365839951 0.00001
NM_033380.3(COL4A5):c.2516A>G (p.His839Arg) rs1272041306 0.00001
NM_033380.3(COL4A5):c.2539G>A (p.Asp847Asn) rs1244012104 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.3878C>T (p.Pro1293Leu) rs1397121500 0.00001
NM_033380.3(COL4A5):c.4693C>G (p.Pro1565Ala) rs104886295 0.00001
NM_033380.3(COL4A5):c.4726C>G (p.Pro1576Ala) rs747041833 0.00001
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys) rs865842167 0.00001
NM_033380.3(COL4A5):c.4937A>G (p.Tyr1646Cys) rs937985430 0.00001
GRCh37/hg19 Xq22.3(chrX:107778107-107900493)x3
NC_000023.10:g.(?_107819140)_(107819202_?)del
NC_000023.10:g.(?_107930692)_(107930944_?)dup
NC_000023.11:g.(?_108575910)_(108597568_?)dup
NM_033380.3(COL4A5):c.-25_-8dup rs752443408
NM_033380.3(COL4A5):c.1022_1030del (p.338PPG[1]) rs2147784405
NM_033380.3(COL4A5):c.1032+5G>T rs104886315
NM_033380.3(COL4A5):c.1033-3A>G rs2066339277
NM_033380.3(COL4A5):c.1033-6A>G rs869025330
NM_033380.3(COL4A5):c.1063A>G (p.Ile355Val)
NM_033380.3(COL4A5):c.1069G>A (p.Glu357Lys) rs1186225656
NM_033380.3(COL4A5):c.1099C>T (p.Pro367Ser)
NM_033380.3(COL4A5):c.113G>T (p.Cys38Phe)
NM_033380.3(COL4A5):c.1164A>T (p.Pro388=)
NM_033380.3(COL4A5):c.1183C>T (p.Pro395Ser) rs2147796628
NM_033380.3(COL4A5):c.1184C>T (p.Pro395Leu)
NM_033380.3(COL4A5):c.1249_1272dup (p.Ser417_Leu424dup) rs2066426356
NM_033380.3(COL4A5):c.1289C>T (p.Ala430Val) rs142883891
NM_033380.3(COL4A5):c.1339+3A>C
NM_033380.3(COL4A5):c.1367C>T (p.Pro456Leu)
NM_033380.3(COL4A5):c.136G>A (p.Glu46Lys)
NM_033380.3(COL4A5):c.141G>T (p.Lys47Asn)
NM_033380.3(COL4A5):c.1424-3T>G
NM_033380.3(COL4A5):c.1432G>T (p.Gly478Cys) rs764743086
NM_033380.3(COL4A5):c.146A>G (p.Glu49Gly) rs1569486475
NM_033380.3(COL4A5):c.147G>T (p.Glu49Asp) rs2147722129
NM_033380.3(COL4A5):c.1502T>G (p.Leu501Arg)
NM_033380.3(COL4A5):c.1517-18T>A
NM_033380.3(COL4A5):c.1517-9G>A
NM_033380.3(COL4A5):c.1520C>A (p.Ser507Tyr) rs1114167369
NM_033380.3(COL4A5):c.1585C>T (p.Pro529Ser)
NM_033380.3(COL4A5):c.1587+5G>A rs2147809251
NM_033380.3(COL4A5):c.1588-10C>G rs1603290097
NM_033380.3(COL4A5):c.1612C>T (p.Pro538Ser) rs2147810008
NM_033380.3(COL4A5):c.1660C>G (p.Pro554Ala) rs2147810221
NM_033380.3(COL4A5):c.1679A>G (p.Lys560Arg)
NM_033380.3(COL4A5):c.1766C>T (p.Pro589Leu) rs2066542878
NM_033380.3(COL4A5):c.1774G>C (p.Glu592Gln)
NM_033380.3(COL4A5):c.1811C>T (p.Pro604Leu)
NM_033380.3(COL4A5):c.1855C>T (p.Pro619Ser) rs1569494314
NM_033380.3(COL4A5):c.1877G>T (p.Gly626Val) rs104886143
NM_033380.3(COL4A5):c.1890A>G (p.Pro630=) rs2147813686
NM_033380.3(COL4A5):c.1919C>T (p.Ala640Val) rs2066572993
NM_033380.3(COL4A5):c.1933C>A (p.Gln645Lys) rs1603290796
NM_033380.3(COL4A5):c.1948+4A>C rs1311897513
NM_033380.3(COL4A5):c.1948+5G>A
NM_033380.3(COL4A5):c.1972A>G (p.Thr658Ala)
NM_033380.3(COL4A5):c.1986_2003dup (p.Lys664_Gly669dup) rs2147819355
NM_033380.3(COL4A5):c.2002C>T (p.Pro668Ser) rs2147819433
NM_033380.3(COL4A5):c.2003C>T (p.Pro668Leu)
NM_033380.3(COL4A5):c.2011C>A (p.Pro671Thr)
NM_033380.3(COL4A5):c.2019A>T (p.Arg673Ser) rs1569494902
NM_033380.3(COL4A5):c.2030_2032dup (p.Val677_Gly678insVal)
NM_033380.3(COL4A5):c.2066C>T (p.Pro689Leu)
NM_033380.3(COL4A5):c.2105G>T (p.Gly702Val)
NM_033380.3(COL4A5):c.212C>T (p.Pro71Leu) rs2065868609
NM_033380.3(COL4A5):c.2135C>G (p.Pro712Arg)
NM_033380.3(COL4A5):c.2145A>G (p.Lys715=) rs1569495067
NM_033380.3(COL4A5):c.2168C>T (p.Pro723Leu)
NM_033380.3(COL4A5):c.2204T>G (p.Leu735Arg)
NM_033380.3(COL4A5):c.2217_2218delinsCT (p.Gly740Trp)
NM_033380.3(COL4A5):c.221G>T (p.Arg74Leu) rs137930367
NM_033380.3(COL4A5):c.2245-12T>A
NM_033380.3(COL4A5):c.2259T>A (p.Phe753Leu) rs2147831970
NM_033380.3(COL4A5):c.2308G>C (p.Ala770Pro) rs2066736056
NM_033380.3(COL4A5):c.2311C>G (p.Leu771Val)
NM_033380.3(COL4A5):c.2330G>C (p.Arg777Pro) rs200371339
NM_033380.3(COL4A5):c.2365A>T (p.Thr789Ser)
NM_033380.3(COL4A5):c.2394A>T (p.Lys798Asn) rs281874691
NM_033380.3(COL4A5):c.2430G>T (p.Met810Ile)
NM_033380.3(COL4A5):c.2434C>T (p.Pro812Ser)
NM_033380.3(COL4A5):c.2441G>A (p.Gly814Glu) rs2066899797
NM_033380.3(COL4A5):c.2509+5G>C rs1556418297
NM_033380.3(COL4A5):c.2524C>T (p.Pro842Ser)
NM_033380.3(COL4A5):c.2548C>T (p.Pro850Ser)
NM_033380.3(COL4A5):c.2666C>G (p.Ser889Cys)
NM_033380.3(COL4A5):c.2678-13A>G
NM_033380.3(COL4A5):c.276+4_276+7del rs2147734917
NM_033380.3(COL4A5):c.2767+4A>G
NM_033380.3(COL4A5):c.2807C>G (p.Pro936Arg)
NM_033380.3(COL4A5):c.2905C>T (p.Pro969Ser)
NM_033380.3(COL4A5):c.2984T>C (p.Leu995Pro)
NM_033380.3(COL4A5):c.3041C>G (p.Pro1014Arg)
NM_033380.3(COL4A5):c.3085A>T (p.Ile1029Phe) rs2147872284
NM_033380.3(COL4A5):c.3116G>A (p.Gly1039Asp) rs1556421658
NM_033380.3(COL4A5):c.3208A>G (p.Ile1070Val)
NM_033380.3(COL4A5):c.3241C>G (p.Pro1081Ala)
NM_033380.3(COL4A5):c.3246+3A>C rs2147873531
NM_033380.3(COL4A5):c.3247-11C>A
NM_033380.3(COL4A5):c.32_33delinsTT (p.Gly11Val)
NM_033380.3(COL4A5):c.3424C>T (p.Pro1142Ser)
NM_033380.3(COL4A5):c.344C>T (p.Ala115Val)
NM_033380.3(COL4A5):c.3454+3A>C
NM_033380.3(COL4A5):c.3457G>C (p.Gly1153Arg)
NM_033380.3(COL4A5):c.3479C>G (p.Pro1160Arg)
NM_033380.3(COL4A5):c.3488C>T (p.Pro1163Leu)
NM_033380.3(COL4A5):c.3496A>G (p.Lys1166Glu) rs1064794446
NM_033380.3(COL4A5):c.3527G>A (p.Gly1176Glu) rs886042570
NM_033380.3(COL4A5):c.3530C>G (p.Pro1177Arg) rs759897999
NM_033380.3(COL4A5):c.3547G>A (p.Glu1183Lys)
NM_033380.3(COL4A5):c.3554G>A (p.Gly1185Asp)
NM_033380.3(COL4A5):c.3604+3A>T rs1569505614
NM_033380.3(COL4A5):c.3604+7_3604+27delinsATGCTAAATCAATCTATAATAA
NM_033380.3(COL4A5):c.3617A>G (p.Asp1206Gly) rs2147959019
NM_033380.3(COL4A5):c.364C>G (p.Pro122Ala)
NM_033380.3(COL4A5):c.3652C>T (p.Leu1218Phe)
NM_033380.3(COL4A5):c.3656C>T (p.Pro1219Leu)
NM_033380.3(COL4A5):c.3680T>C (p.Phe1227Ser)
NM_033380.3(COL4A5):c.3706C>G (p.Pro1236Ala)
NM_033380.3(COL4A5):c.3742G>A (p.Glu1248Lys)
NM_033380.3(COL4A5):c.3785G>A (p.Arg1262Lys)
NM_033380.3(COL4A5):c.3787C>T (p.Pro1263Ser) rs1012489715
NM_033380.3(COL4A5):c.384G>C (p.Lys128Asn) rs1569488434
NM_033380.3(COL4A5):c.385-11A>G
NM_033380.3(COL4A5):c.3905C>T (p.Pro1302Leu)
NM_033380.3(COL4A5):c.3942G>A (p.Gln1314=) rs281874724
NM_033380.3(COL4A5):c.3954C>T (p.Gly1318=)
NM_033380.3(COL4A5):c.3964C>G (p.Leu1322Val) rs762726134
NM_033380.3(COL4A5):c.3967A>G (p.Asn1323Asp)
NM_033380.3(COL4A5):c.3968A>G (p.Asn1323Ser)
NM_033380.3(COL4A5):c.4048G>T (p.Ala1350Ser)
NM_033380.3(COL4A5):c.4086A>T (p.Pro1362=)
NM_033380.3(COL4A5):c.4088-3T>C
NM_033380.3(COL4A5):c.4088-3T>G rs748750912
NM_033380.3(COL4A5):c.4094C>T (p.Pro1365Leu)
NM_033380.3(COL4A5):c.4124_4132dup (p.Ile1377_Lys1378insIleIleIle)
NM_033380.3(COL4A5):c.4155_4157del (p.Ile1386del) rs1569507545
NM_033380.3(COL4A5):c.4228C>T (p.Pro1410Ser)
NM_033380.3(COL4A5):c.4232C>T (p.Pro1411Leu) rs2147989213
NM_033380.3(COL4A5):c.4258C>G (p.Pro1420Ala)
NM_033380.3(COL4A5):c.4282C>A (p.Arg1428Ser) rs144282156
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.4364C>T (p.Pro1455Leu)
NM_033380.3(COL4A5):c.4372C>T (p.Pro1458Ser)
NM_033380.3(COL4A5):c.438+5G>A rs281874739
NM_033380.3(COL4A5):c.439-7A>G rs2147754958
NM_033380.3(COL4A5):c.4393G>A (p.Ala1465Thr) rs2147991378
NM_033380.3(COL4A5):c.4405C>T (p.Leu1469Phe)
NM_033380.3(COL4A5):c.4415_4416delinsCT (p.Arg1472Pro) rs2147991408
NM_033380.3(COL4A5):c.4454G>A (p.Gly1485Glu)
NM_033380.3(COL4A5):c.4469A>T (p.Tyr1490Phe)
NM_033380.3(COL4A5):c.4508G>C (p.Arg1503Thr) rs2147991674
NM_033380.3(COL4A5):c.4529-345A>G rs1569508899
NM_033380.3(COL4A5):c.4544G>A (p.Cys1515Tyr) rs2068656815
NM_033380.3(COL4A5):c.4568C>G (p.Pro1523Arg) rs1603326447
NM_033380.3(COL4A5):c.4570T>G (p.Phe1524Val) rs2147998401
NM_033380.3(COL4A5):c.4575G>C (p.Met1525Ile) rs2147998421
NM_033380.3(COL4A5):c.4579T>A (p.Cys1527Ser)
NM_033380.3(COL4A5):c.462G>A (p.Met154Ile) rs2066069939
NM_033380.3(COL4A5):c.4632G>C (p.Trp1544Cys) rs104886294
NM_033380.3(COL4A5):c.4632G>T (p.Trp1544Cys)
NM_033380.3(COL4A5):c.465+2_465+3dup rs1569488954
NM_033380.3(COL4A5):c.466-13T>A rs1569489302
NM_033380.3(COL4A5):c.4670C>T (p.Pro1557Leu)
NM_033380.3(COL4A5):c.4679G>A (p.Gly1560Asp) rs2147998721
NM_033380.3(COL4A5):c.467G>A (p.Gly156Asp)
NM_033380.3(COL4A5):c.467G>T (p.Gly156Val) rs2066099190
NM_033380.3(COL4A5):c.4706+5G>T
NM_033380.3(COL4A5):c.4706+6G>A
NM_033380.3(COL4A5):c.4707-30_4707-11del rs2148001404
NM_033380.3(COL4A5):c.4747C>G (p.His1583Asp)
NM_033380.3(COL4A5):c.476G>A (p.Gly159Asp) rs2147759208
NM_033380.3(COL4A5):c.4789G>A (p.Asp1597Asn) rs2148001674
NM_033380.3(COL4A5):c.4822-10T>C
NM_033380.3(COL4A5):c.4822-10del
NM_033380.3(COL4A5):c.4856C>T (p.Ala1619Val)
NM_033380.3(COL4A5):c.4876T>A (p.Cys1626Ser) rs2068715609
NM_033380.3(COL4A5):c.4877G>A (p.Cys1626Tyr)
NM_033380.3(COL4A5):c.4915C>T (p.His1639Tyr)
NM_033380.3(COL4A5):c.4918G>A (p.Gly1640Arg)
NM_033380.3(COL4A5):c.4940A>G (p.Tyr1647Cys) rs2148002477
NM_033380.3(COL4A5):c.4946A>G (p.Asn1649Ser)
NM_033380.3(COL4A5):c.4952A>G (p.Tyr1651Cys) rs2068717823
NM_033380.3(COL4A5):c.4960T>C (p.Trp1654Arg) rs1569509354
NM_033380.3(COL4A5):c.4972G>A (p.Val1658Ile) rs2068718130
NM_033380.3(COL4A5):c.4972G>C (p.Val1658Leu) rs2068718130
NM_033380.3(COL4A5):c.4975G>T (p.Asp1659Tyr)
NM_033380.3(COL4A5):c.4994+3A>G rs1569509373
NM_033380.3(COL4A5):c.4994+5A>G
NM_033380.3(COL4A5):c.4994+6G>C
NM_033380.3(COL4A5):c.5029T>G (p.Leu1677Val) rs2148003708
NM_033380.3(COL4A5):c.5054A>C (p.Gln1685Pro) rs1569509492
NM_033380.3(COL4A5):c.532C>T (p.Pro178Ser)
NM_033380.3(COL4A5):c.546+4A>G
NM_033380.3(COL4A5):c.546+4del rs2066101600
NM_033380.3(COL4A5):c.546+6T>A rs2147759554
NM_033380.3(COL4A5):c.547-11C>G rs1287996085
NM_033380.3(COL4A5):c.572_583del (p.Pro191_Gly195delinsArg) rs1569489843
NM_033380.3(COL4A5):c.58T>C (p.Trp20Arg)
NM_033380.3(COL4A5):c.609G>T (p.Met203Ile) rs2147765366
NM_033380.3(COL4A5):c.639A>G (p.Gly213=) rs2147770243
NM_033380.3(COL4A5):c.646-6C>G rs200151467
NM_033380.3(COL4A5):c.646G>A (p.Gly216Arg) rs104886067
NM_033380.3(COL4A5):c.655G>A (p.Gly219Ser) rs104886075
NM_033380.3(COL4A5):c.670G>A (p.Gly224Arg) rs2147770608
NM_033380.3(COL4A5):c.687+5G>A rs1556405930
NM_033380.3(COL4A5):c.709C>T (p.Pro237Ser) rs2147771258
NM_033380.3(COL4A5):c.718C>T (p.Pro240Ser)
NM_033380.3(COL4A5):c.768G>C (p.Gln256His) rs2147771484
NM_033380.3(COL4A5):c.779A>C (p.Gln260Pro)
NM_033380.3(COL4A5):c.781-8C>G
NM_033380.3(COL4A5):c.812C>G (p.Pro271Arg) rs2147776169
NM_033380.3(COL4A5):c.81G>A (p.Ala27=) rs1569469478
NM_033380.3(COL4A5):c.82G>A (p.Ala28Thr) rs869025333
NM_033380.3(COL4A5):c.834+13A>G
NM_033380.3(COL4A5):c.856G>T (p.Gly286Cys)
NM_033380.3(COL4A5):c.872A>C (p.Gln291Pro)
NM_033380.3(COL4A5):c.891+5G>A rs2147776814
NM_033380.3(COL4A5):c.891+9T>G rs779787322
NM_033380.3(COL4A5):c.926C>G (p.Pro309Arg)
NM_033380.3(COL4A5):c.936+9C>G rs2066238622
NM_033380.3(COL4A5):c.937-10T>A
NM_033380.3(COL4A5):c.991-14A>G rs2147784234

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