ClinVar Miner

List of variants studied for hematuria, benign familial, 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 525
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.2629C>T (p.Arg877Trp) rs55948916 0.00026
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) rs76636743 0.00021
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863 0.00019
NM_000092.5(COL4A4):c.1246C>G (p.Pro416Ala) rs372841765 0.00018
NM_000092.5(COL4A4):c.1055C>T (p.Pro352Leu) rs371717486 0.00016
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr) rs200450557 0.00016
NM_000092.5(COL4A4):c.2840G>A (p.Arg947Gln) rs373540400 0.00014
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) rs35138315 0.00011
NM_000092.5(COL4A4):c.338G>A (p.Gly113Asp) rs766085522 0.00011
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711 0.00010
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu) rs200860702 0.00009
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652 0.00008
NM_000092.5(COL4A4):c.3532G>A (p.Gly1178Ser) rs780504632 0.00007
NM_000092.5(COL4A4):c.2170C>T (p.Arg724Cys) rs754398956 0.00006
NM_000092.5(COL4A4):c.3022G>A (p.Gly1008Arg) rs371172166 0.00006
NM_000092.5(COL4A4):c.4151C>T (p.Ala1384Val) rs199911379 0.00006
NM_000092.5(COL4A4):c.8C>T (p.Ser3Phe) rs201403066 0.00006
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala) rs548019779 0.00005
NM_000092.5(COL4A4):c.2570C>T (p.Pro857Leu) rs533602128 0.00005
NM_000092.5(COL4A4):c.4612G>A (p.Asp1538Asn) rs376401228 0.00005
NM_000092.5(COL4A4):c.4810-15_4810-14del rs776687068 0.00005
NM_000092.5(COL4A4):c.928C>T (p.Arg310Trp) rs200817090 0.00005
NM_000092.5(COL4A4):c.1668G>T (p.Lys556Asn) rs764279454 0.00004
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000092.5(COL4A4):c.2516C>T (p.Pro839Leu) rs199562472 0.00004
NM_000092.5(COL4A4):c.2986G>A (p.Gly996Arg) rs370474706 0.00004
NM_000092.5(COL4A4):c.3743G>A (p.Gly1248Glu) rs548799639 0.00004
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 0.00004
NM_000092.5(COL4A4):c.4513C>G (p.Gln1505Glu) rs756535060 0.00004
NM_000092.5(COL4A4):c.4640C>T (p.Ala1547Val) rs780916516 0.00004
NM_000092.5(COL4A4):c.4718C>T (p.Ala1573Val) rs762613810 0.00004
NM_000092.5(COL4A4):c.4817G>A (p.Gly1606Glu) rs767901025 0.00004
NM_000092.5(COL4A4):c.3089G>A (p.Gly1030Asp) rs772699709 0.00003
NM_000092.5(COL4A4):c.4546G>A (p.Val1516Ile) rs199517662 0.00003
NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549 0.00003
NM_000092.5(COL4A4):c.5029C>T (p.Arg1677Cys) rs759631057 0.00003
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471 0.00002
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109 0.00002
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460 0.00002
NM_000092.5(COL4A4):c.2590G>A (p.Gly864Arg) rs937550597 0.00002
NM_000092.5(COL4A4):c.2732C>G (p.Pro911Arg) rs764465049 0.00002
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg) rs372606845 0.00002
NM_000092.5(COL4A4):c.3355A>G (p.Arg1119Gly) rs778458961 0.00002
NM_000092.5(COL4A4):c.3622C>G (p.Leu1208Val) rs780290586 0.00002
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg) rs755961411 0.00002
NM_000092.5(COL4A4):c.490-3C>G rs762040845 0.00002
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235 0.00001
NM_000092.5(COL4A4):c.1145G>C (p.Gly382Ala) rs751952236 0.00001
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=) rs778832152 0.00001
NM_000092.5(COL4A4):c.1360G>A (p.Gly454Arg) rs1319908269 0.00001
NM_000092.5(COL4A4):c.1370-5G>T rs752509706 0.00001
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser) rs181528936 0.00001
NM_000092.5(COL4A4):c.1579G>T (p.Gly527Cys) rs779930511 0.00001
NM_000092.5(COL4A4):c.1792C>A (p.Pro598Thr) rs1411689737 0.00001
NM_000092.5(COL4A4):c.1823C>A (p.Thr608Asn) rs747599746 0.00001
NM_000092.5(COL4A4):c.1921C>T (p.Arg641Ter) rs778345125 0.00001
NM_000092.5(COL4A4):c.192G>A (p.Arg64=) rs748152418 0.00001
NM_000092.5(COL4A4):c.193G>A (p.Gly65Ser) rs776036994 0.00001
NM_000092.5(COL4A4):c.1963C>T (p.Pro655Ser) rs886055726 0.00001
NM_000092.5(COL4A4):c.2045A>G (p.Asp682Gly) rs142093416 0.00001
NM_000092.5(COL4A4):c.2092G>A (p.Gly698Arg) rs1241404192 0.00001
NM_000092.5(COL4A4):c.2123G>T (p.Arg708Ile) rs759828394 0.00001
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser) rs760803228 0.00001
NM_000092.5(COL4A4):c.2617G>A (p.Gly873Arg) rs929684384 0.00001
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860 0.00001
NM_000092.5(COL4A4):c.2839C>T (p.Arg947Trp) rs572872038 0.00001
NM_000092.5(COL4A4):c.2860+3A>C rs1214723450 0.00001
NM_000092.5(COL4A4):c.2969-10A>G rs1576130915 0.00001
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu) rs769138971 0.00001
NM_000092.5(COL4A4):c.303A>T (p.Gly101=) rs1450052915 0.00001
NM_000092.5(COL4A4):c.3317G>A (p.Gly1106Asp) rs1559482299 0.00001
NM_000092.5(COL4A4):c.3434G>A (p.Gly1145Glu) rs1260916310 0.00001
NM_000092.5(COL4A4):c.3590T>C (p.Val1197Ala) rs946572297 0.00001
NM_000092.5(COL4A4):c.3734G>T (p.Gly1245Val) rs1189502123 0.00001
NM_000092.5(COL4A4):c.3918A>G (p.Pro1306=) rs777256419 0.00001
NM_000092.5(COL4A4):c.4091G>T (p.Gly1364Val) rs770364064 0.00001
NM_000092.5(COL4A4):c.410G>A (p.Gly137Asp) rs377511303 0.00001
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861 0.00001
NM_000092.5(COL4A4):c.4288G>A (p.Gly1430Arg) rs775926807 0.00001
NM_000092.5(COL4A4):c.4333+3A>G rs1455105815 0.00001
NM_000092.5(COL4A4):c.4792G>A (p.Gly1598Arg) rs1403779580 0.00001
NM_000092.5(COL4A4):c.489+1G>A rs1040287646 0.00001
NM_000092.5(COL4A4):c.4915G>C (p.Gly1639Arg) rs749899964 0.00001
NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724 0.00001
NM_000092.5(COL4A4):c.5048G>A (p.Cys1683Tyr) rs1386495377 0.00001
NM_000092.5(COL4A4):c.559-2A>G rs766243664 0.00001
NM_000092.5(COL4A4):c.559-2A>T rs766243664 0.00001
NM_000092.5(COL4A4):c.614G>T (p.Gly205Val) rs2061040474 0.00001
NM_000092.5(COL4A4):c.734C>T (p.Pro245Leu) rs770011392 0.00001
NM_000092.5(COL4A4):c.735+2T>C rs2060993180 0.00001
NM_000092.5(COL4A4):c.735G>A (p.Pro245=) rs923865420 0.00001
NM_000092.5(COL4A4):c.754G>A (p.Gly252Ser) rs2060673883 0.00001
NM_000092.5(COL4A4):c.755G>T (p.Gly252Val) rs760795817 0.00001
NM_000092.5(COL4A4):c.817G>T (p.Gly273Cys) rs762043158 0.00001
NM_000092.5(COL4A4):c.871-6T>C rs749753913 0.00001
NM_000092.5(COL4A4):c.975+1G>A rs1553683192 0.00001
NC_000002.12:g.227030555delinsGAG rs1575895541
NM_000091.5(COL4A3):c.1805G>A (p.Gly602Asp)
NM_000091.5(COL4A3):c.3337+7C>A
NM_000092.4(COL4A4):c.1321_1369+3del rs1553676221
NM_000092.5(COL4A4):c.1003G>T (p.Gly335Trp)
NM_000092.5(COL4A4):c.100C>A (p.Gln34Lys)
NM_000092.5(COL4A4):c.1022G>A (p.Gly341Asp)
NM_000092.5(COL4A4):c.1029+2T>C rs1553682895
NM_000092.5(COL4A4):c.1029G>T (p.Lys343Asn)
NM_000092.5(COL4A4):c.1030-2A>C rs1553681714
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter) rs534522842
NM_000092.5(COL4A4):c.1049G>A (p.Gly350Glu)
NM_000092.5(COL4A4):c.104A>G (p.Tyr35Cys)
NM_000092.5(COL4A4):c.1074G>C (p.Leu358Phe) rs374680846
NM_000092.5(COL4A4):c.1098A>G (p.Lys366=) rs1305609812
NM_000092.5(COL4A4):c.1099G>A (p.Gly367Ser) rs764981982
NM_000092.5(COL4A4):c.1099G>C (p.Gly367Arg)
NM_000092.5(COL4A4):c.1106C>T (p.Pro369Leu)
NM_000092.5(COL4A4):c.1124C>T (p.Pro375Leu)
NM_000092.5(COL4A4):c.1130G>A (p.Arg377His)
NM_000092.5(COL4A4):c.1142C>T (p.Thr381Ile)
NM_000092.5(COL4A4):c.1143del (p.Asp383fs)
NM_000092.5(COL4A4):c.1144G>A (p.Gly382Arg) rs2150739928
NM_000092.5(COL4A4):c.1146_1147dup (p.Asp383fs)
NM_000092.5(COL4A4):c.1148A>G (p.Asp383Gly)
NM_000092.5(COL4A4):c.114G>A (p.Gly38=)
NM_000092.5(COL4A4):c.1169del (p.Pro390fs)
NM_000092.5(COL4A4):c.1172G>A (p.Gly391Asp)
NM_000092.5(COL4A4):c.119G>A (p.Gly40Glu)
NM_000092.5(COL4A4):c.1205-1_1205delinsC
NM_000092.5(COL4A4):c.1222G>A (p.Gly408Arg)
NM_000092.5(COL4A4):c.1235T>G (p.Phe412Cys)
NM_000092.5(COL4A4):c.1240G>A (p.Gly414Ser)
NM_000092.5(COL4A4):c.1240G>C (p.Gly414Arg)
NM_000092.5(COL4A4):c.1241G>A (p.Gly414Asp) rs2150687507
NM_000092.5(COL4A4):c.1243C>A (p.Leu415Ile)
NM_000092.5(COL4A4):c.1252_1278dup (p.Gly426_Arg427insLeuProGlyGluAlaGlyIleProGly)
NM_000092.5(COL4A4):c.1267G>A (p.Gly423Ser)
NM_000092.5(COL4A4):c.1268G>A (p.Gly423Asp)
NM_000092.5(COL4A4):c.1277G>A (p.Gly426Glu)
NM_000092.5(COL4A4):c.129C>G (p.Tyr43Ter)
NM_000092.5(COL4A4):c.1308dup (p.Lys437fs)
NM_000092.5(COL4A4):c.1315G>A (p.Gly439Arg)
NM_000092.5(COL4A4):c.1324G>A (p.Gly442Ser)
NM_000092.5(COL4A4):c.1327_1344del (p.Pro444_Leu449del) rs1203564054
NM_000092.5(COL4A4):c.134del (p.Gly45fs)
NM_000092.5(COL4A4):c.1351G>A (p.Gly451Ser)
NM_000092.5(COL4A4):c.1352G>A (p.Gly451Asp)
NM_000092.5(COL4A4):c.1358C>T (p.Pro453Leu)
NM_000092.5(COL4A4):c.1364C>T (p.Ser455Leu)
NM_000092.5(COL4A4):c.1369+10T>G rs2060083691
NM_000092.5(COL4A4):c.136C>A (p.Pro46Thr)
NM_000092.5(COL4A4):c.1389del (p.Asn464fs) rs1576428862
NM_000092.5(COL4A4):c.1399_1400del (p.Pro467fs)
NM_000092.5(COL4A4):c.141T>A (p.Cys47Ter)
NM_000092.5(COL4A4):c.1438A>G (p.Arg480Gly)
NM_000092.5(COL4A4):c.1499G>T (p.Gly500Val)
NM_000092.5(COL4A4):c.1504C>G (p.Pro502Ala)
NM_000092.5(COL4A4):c.1504C>T (p.Pro502Ser)
NM_000092.5(COL4A4):c.1505del (p.Pro502fs)
NM_000092.5(COL4A4):c.1505dup (p.Gly503fs)
NM_000092.5(COL4A4):c.1536G>T (p.Gly512=)
NM_000092.5(COL4A4):c.1538G>A (p.Ser513Asn)
NM_000092.5(COL4A4):c.1553G>A (p.Gly518Glu) rs564334744
NM_000092.5(COL4A4):c.1554del (p.Leu519fs)
NM_000092.5(COL4A4):c.1565G>A (p.Trp522Ter)
NM_000092.5(COL4A4):c.1577A>G (p.Lys526Arg)
NM_000092.5(COL4A4):c.1580del (p.Gly527fs) rs2059732983
NM_000092.5(COL4A4):c.1598G>A (p.Gly533Asp) rs1553669704
NM_000092.5(COL4A4):c.1612C>G (p.Pro538Ala)
NM_000092.5(COL4A4):c.1619T>C (p.Leu540Pro)
NM_000092.5(COL4A4):c.1624-2A>G
NM_000092.5(COL4A4):c.1652G>A (p.Gly551Asp) rs2059360185
NM_000092.5(COL4A4):c.1652_1653delinsAA (p.Gly551Glu)
NM_000092.5(COL4A4):c.1696+1G>A rs954701825
NM_000092.5(COL4A4):c.1696+3G>A
NM_000092.5(COL4A4):c.1696+6C>T
NM_000092.5(COL4A4):c.1697-2A>C
NM_000092.5(COL4A4):c.1748C>T (p.Pro583Leu)
NM_000092.5(COL4A4):c.1757A>G (p.His586Arg)
NM_000092.5(COL4A4):c.1762C>T (p.Arg588Trp)
NM_000092.5(COL4A4):c.1763G>A (p.Arg588Gln)
NM_000092.5(COL4A4):c.1772A>G (p.His591Arg)
NM_000092.5(COL4A4):c.1777G>T (p.Gly593Ter)
NM_000092.5(COL4A4):c.1798C>T (p.Pro600Ser)
NM_000092.5(COL4A4):c.1802del (p.Pro601fs)
NM_000092.5(COL4A4):c.1804-1G>C
NM_000092.5(COL4A4):c.1820C>A (p.Ala607Glu)
NM_000092.5(COL4A4):c.1874G>A (p.Gly625Glu)
NM_000092.5(COL4A4):c.1915G>C (p.Gly639Arg)
NM_000092.5(COL4A4):c.1922G>A (p.Arg641Gln)
NM_000092.5(COL4A4):c.1925G>T (p.Gly642Val)
NM_000092.5(COL4A4):c.193-13T>A
NM_000092.5(COL4A4):c.193-2A>C rs2125038490
NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del) rs1553658892
NM_000092.5(COL4A4):c.1938_1941dup (p.Gly648fs)
NM_000092.5(COL4A4):c.194G>T (p.Gly65Val)
NM_000092.5(COL4A4):c.1951G>A (p.Gly651Ser)
NM_000092.5(COL4A4):c.1956G>A (p.Val652=) rs2150475372
NM_000092.5(COL4A4):c.1961del (p.Gly654fs)
NM_000092.5(COL4A4):c.196C>T (p.Pro66Ser)
NM_000092.5(COL4A4):c.1986A>T (p.Lys662Asn)
NM_000092.5(COL4A4):c.1987+1G>A rs2150474860
NM_000092.5(COL4A4):c.1987G>A (p.Gly663Ser)
NM_000092.5(COL4A4):c.1988-2A>G
NM_000092.5(COL4A4):c.1988G>A (p.Gly663Asp)
NM_000092.5(COL4A4):c.199C>T (p.Pro67Ser)
NM_000092.5(COL4A4):c.2027A>G (p.His676Arg)
NM_000092.5(COL4A4):c.2029G>A (p.Gly677Ser) rs1977400475
NM_000092.5(COL4A4):c.203G>A (p.Gly68Glu)
NM_000092.5(COL4A4):c.203G>T (p.Gly68Val)
NM_000092.5(COL4A4):c.2044G>A (p.Asp682Asn)
NM_000092.5(COL4A4):c.2046T>G (p.Asp682Glu)
NM_000092.5(COL4A4):c.2057G>A (p.Gly686Asp) rs1156323870
NM_000092.5(COL4A4):c.2075G>T (p.Gly692Val)
NM_000092.5(COL4A4):c.2115dup (p.Lys706Ter)
NM_000092.5(COL4A4):c.2165-1G>A
NM_000092.5(COL4A4):c.2189C>T (p.Pro730Leu)
NM_000092.5(COL4A4):c.2218C>T (p.Pro740Ser)
NM_000092.5(COL4A4):c.2243G>C (p.Gly748Ala)
NM_000092.5(COL4A4):c.2251G>A (p.Gly751Arg)
NM_000092.5(COL4A4):c.2251G>T (p.Gly751Ter) rs2150275391
NM_000092.5(COL4A4):c.2252G>C (p.Gly751Ala)
NM_000092.5(COL4A4):c.2254G>C (p.Val752Leu)
NM_000092.5(COL4A4):c.2263C>A (p.Gln755Lys)
NM_000092.5(COL4A4):c.2270G>A (p.Gly757Glu)
NM_000092.5(COL4A4):c.2283C>A (p.Asp761Glu)
NM_000092.5(COL4A4):c.2302G>T (p.Gly768Ter)
NM_000092.5(COL4A4):c.2363C>T (p.Pro788Leu)
NM_000092.5(COL4A4):c.2383+1G>A
NM_000092.5(COL4A4):c.2385del rs1975778377
NM_000092.5(COL4A4):c.2390C>G (p.Ala797Gly)
NM_000092.5(COL4A4):c.2399del (p.Pro800fs)
NM_000092.5(COL4A4):c.2402G>A (p.Gly801Glu)
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val) rs200814061
NM_000092.5(COL4A4):c.2419G>T (p.Gly807Cys)
NM_000092.5(COL4A4):c.2441A>G (p.His814Arg)
NM_000092.5(COL4A4):c.2446_2453dup (p.Val820fs) rs2150250774
NM_000092.5(COL4A4):c.2447G>A (p.Gly816Glu)
NM_000092.5(COL4A4):c.2456G>T (p.Gly819Val) rs1576189036
NM_000092.5(COL4A4):c.2464G>C (p.Gly822Arg)
NM_000092.5(COL4A4):c.2485G>C (p.Glu829Gln)
NM_000092.5(COL4A4):c.248G>A (p.Gly83Glu) rs1559677316
NM_000092.5(COL4A4):c.2501G>A (p.Gly834Glu)
NM_000092.5(COL4A4):c.2519G>A (p.Gly840Glu)
NM_000092.5(COL4A4):c.2529_2537delinsAT (p.Tyr844fs)
NM_000092.5(COL4A4):c.2536G>A (p.Gly846Ser)
NM_000092.5(COL4A4):c.2545+1G>A
NM_000092.5(COL4A4):c.2545+2_2545+3dup
NM_000092.5(COL4A4):c.2545+5G>A
NM_000092.5(COL4A4):c.2546-16C>G
NM_000092.5(COL4A4):c.2546-1G>C rs1553641728
NM_000092.5(COL4A4):c.254T>C (p.Ile85Thr)
NM_000092.5(COL4A4):c.2555G>A (p.Gly852Asp)
NM_000092.5(COL4A4):c.2563G>A (p.Gly855Arg)
NM_000092.5(COL4A4):c.2575del (p.Asp859fs)
NM_000092.5(COL4A4):c.2579T>G (p.Val860Gly)
NM_000092.5(COL4A4):c.2599G>A (p.Gly867Arg)
NM_000092.5(COL4A4):c.2608G>C (p.Gly870Arg)
NM_000092.5(COL4A4):c.2609G>C (p.Gly870Ala)
NM_000092.5(COL4A4):c.2616del (p.Gly873fs)
NM_000092.5(COL4A4):c.2620C>A (p.Leu874Ile)
NM_000092.5(COL4A4):c.2621_2647dup (p.Leu874_Gly882dup) rs765923395
NM_000092.5(COL4A4):c.2628_2654dup (p.Arg877_Gly885dup) rs1553641597
NM_000092.5(COL4A4):c.2629_2664del (p.Arg877_Gly888del) rs2150234491
NM_000092.5(COL4A4):c.2638del (p.Ala880fs) rs778043831
NM_000092.5(COL4A4):c.2644_2647delinsTCCAGGAGGCCT (p.Gly882fs)
NM_000092.5(COL4A4):c.2650C>A (p.Pro884Thr)
NM_000092.5(COL4A4):c.2662G>A (p.Gly888Arg) rs1363277825
NM_000092.5(COL4A4):c.2668C>G (p.Pro890Ala)
NM_000092.5(COL4A4):c.2675C>A (p.Pro892His)
NM_000092.5(COL4A4):c.2715_2716+1dup
NM_000092.5(COL4A4):c.2716+5G>A
NM_000092.5(COL4A4):c.2722C>T (p.Arg908Trp)
NM_000092.5(COL4A4):c.2734G>T (p.Gly912Cys)
NM_000092.5(COL4A4):c.2762G>A (p.Gly921Glu)
NM_000092.5(COL4A4):c.2765del (p.Lys922fs)
NM_000092.5(COL4A4):c.2776G>A (p.Glu926Lys)
NM_000092.5(COL4A4):c.2861-14A>G
NM_000092.5(COL4A4):c.2861-17A>G
NM_000092.5(COL4A4):c.2869G>A (p.Gly957Arg) rs1402343399
NM_000092.5(COL4A4):c.2878G>C (p.Gly960Arg) rs769783985
NM_000092.5(COL4A4):c.2892_2893insC (p.Met965fs)
NM_000092.5(COL4A4):c.2896dup (p.Ala966fs)
NM_000092.5(COL4A4):c.2908C>T (p.Gln970Ter) rs372413045
NM_000092.5(COL4A4):c.292G>A (p.Gly98Ser)
NM_000092.5(COL4A4):c.292_293dup (p.Pro99fs)
NM_000092.5(COL4A4):c.2932G>C (p.Gly978Arg)
NM_000092.5(COL4A4):c.2957C>T (p.Pro986Leu)
NM_000092.5(COL4A4):c.2967_2968del (p.Arg989_Gly990insTer) rs748473278
NM_000092.5(COL4A4):c.2968+1G>A
NM_000092.5(COL4A4):c.2986G>T (p.Gly996Trp)
NM_000092.5(COL4A4):c.3013G>A (p.Gly1005Arg)
NM_000092.5(COL4A4):c.3028C>G (p.Pro1010Ala)
NM_000092.5(COL4A4):c.3052G>A (p.Gly1018Ser)
NM_000092.5(COL4A4):c.3052G>C (p.Gly1018Arg)
NM_000092.5(COL4A4):c.3057G>T (p.Glu1019Asp)
NM_000092.5(COL4A4):c.3071_3074del (p.Gly1024fs)
NM_000092.5(COL4A4):c.3073CCT[3] (p.Pro1026_Gly1027insPro)
NM_000092.5(COL4A4):c.3086del (p.Pro1029fs)
NM_000092.5(COL4A4):c.3087del (p.Gly1030fs)
NM_000092.5(COL4A4):c.3120C>A (p.Phe1040Leu)
NM_000092.5(COL4A4):c.3142G>T (p.Gly1048Cys)
NM_000092.5(COL4A4):c.3152G>C (p.Gly1051Ala)
NM_000092.5(COL4A4):c.3161G>T (p.Gly1054Val)
NM_000092.5(COL4A4):c.3172C>A (p.Pro1058Thr)
NM_000092.5(COL4A4):c.3177del (p.Gly1060fs)
NM_000092.5(COL4A4):c.3178G>C (p.Gly1060Arg)
NM_000092.5(COL4A4):c.317A>G (p.Lys106Arg)
NM_000092.5(COL4A4):c.3195T>A (p.Asp1065Glu)
NM_000092.5(COL4A4):c.3196G>C (p.Gly1066Arg) rs1333536476
NM_000092.5(COL4A4):c.3197G>T (p.Gly1066Val)
NM_000092.5(COL4A4):c.3206G>A (p.Gly1069Glu) rs2150172344
NM_000092.5(COL4A4):c.3211A>G (p.Lys1071Glu)
NM_000092.5(COL4A4):c.3214+1G>A rs747167770
NM_000092.5(COL4A4):c.3214+1G>T rs747167770
NM_000092.5(COL4A4):c.3214+2T>A
NM_000092.5(COL4A4):c.3214+3A>G
NM_000092.5(COL4A4):c.3215-3C>A
NM_000092.5(COL4A4):c.3222dup (p.Gly1075fs) rs1559493506
NM_000092.5(COL4A4):c.322G>T (p.Asp108Tyr)
NM_000092.5(COL4A4):c.3260A>C (p.Lys1087Thr)
NM_000092.5(COL4A4):c.3265G>A (p.Glu1089Lys)
NM_000092.5(COL4A4):c.327+1_327+5del
NM_000092.5(COL4A4):c.328-1G>A rs754669149
NM_000092.5(COL4A4):c.3285T>G (p.Cys1095Trp)
NM_000092.5(COL4A4):c.3289+1G>C rs1973128133
NM_000092.5(COL4A4):c.3290-2A>C
NM_000092.5(COL4A4):c.3305C>T (p.Ser1102Phe)
NM_000092.5(COL4A4):c.3310_3313dup (p.Gln1105fs) rs1971796422
NM_000092.5(COL4A4):c.3312del (p.Glu1104fs)
NM_000092.5(COL4A4):c.3313del (p.Gln1105fs)
NM_000092.5(COL4A4):c.3316G>A (p.Gly1106Ser)
NM_000092.5(COL4A4):c.331C>T (p.Pro111Ser)
NM_000092.5(COL4A4):c.3328A>G (p.Ile1110Val)
NM_000092.5(COL4A4):c.3331C>T (p.Gln1111Ter)
NM_000092.5(COL4A4):c.3352G>A (p.Gly1118Arg)
NM_000092.5(COL4A4):c.3356G>C (p.Arg1119Thr)
NM_000092.5(COL4A4):c.3357G>C (p.Arg1119Ser)
NM_000092.5(COL4A4):c.335C>T (p.Thr112Ile)
NM_000092.5(COL4A4):c.3374C>T (p.Ser1125Phe) rs766044583
NM_000092.5(COL4A4):c.3394C>G (p.Pro1132Ala)
NM_000092.5(COL4A4):c.3415G>C (p.Gly1139Arg)
NM_000092.5(COL4A4):c.3424_3425del (p.Gly1142fs)
NM_000092.5(COL4A4):c.3441G>A (p.Met1147Ile)
NM_000092.5(COL4A4):c.3461G>A (p.Gly1154Asp)
NM_000092.5(COL4A4):c.3469G>C (p.Gly1157Arg)
NM_000092.5(COL4A4):c.3469G>T (p.Gly1157Trp)
NM_000092.5(COL4A4):c.3470G>A (p.Gly1157Glu)
NM_000092.5(COL4A4):c.3472G>A (p.Asp1158Asn)
NM_000092.5(COL4A4):c.3488G>A (p.Gly1163Asp) rs1559480099
NM_000092.5(COL4A4):c.3494C>T (p.Pro1165Leu)
NM_000092.5(COL4A4):c.3506-13_3528del rs2149993330
NM_000092.5(COL4A4):c.3514G>T (p.Gly1172Ter) rs1364773011
NM_000092.5(COL4A4):c.3519_3526dup (p.Leu1176fs)
NM_000092.5(COL4A4):c.3520C>T (p.Pro1174Ser)
NM_000092.5(COL4A4):c.3523G>C (p.Gly1175Arg)
NM_000092.5(COL4A4):c.352C>T (p.Pro118Ser)
NM_000092.5(COL4A4):c.3548A>G (p.Lys1183Arg)
NM_000092.5(COL4A4):c.3577+2T>G
NM_000092.5(COL4A4):c.3577G>T (p.Gly1193Cys) rs1158350974
NM_000092.5(COL4A4):c.3578-2A>C
NM_000092.5(COL4A4):c.361G>A (p.Asp121Asn)
NM_000092.5(COL4A4):c.3631G>A (p.Glu1211Lys)
NM_000092.5(COL4A4):c.3636_3637del (p.Gly1213fs)
NM_000092.5(COL4A4):c.3656G>T (p.Gly1219Val)
NM_000092.5(COL4A4):c.3676C>T (p.Arg1226Cys)
NM_000092.5(COL4A4):c.3679G>C (p.Gly1227Arg)
NM_000092.5(COL4A4):c.3689G>C (p.Gly1230Ala)
NM_000092.5(COL4A4):c.3689G>T (p.Gly1230Val)
NM_000092.5(COL4A4):c.3698G>C (p.Gly1233Ala)
NM_000092.5(COL4A4):c.3704del (p.Pro1235fs) rs754706338
NM_000092.5(COL4A4):c.3716G>C (p.Gly1239Ala)
NM_000092.5(COL4A4):c.3722_3740del (p.Pro1241fs)
NM_000092.5(COL4A4):c.3730G>A (p.Ala1244Thr)
NM_000092.5(COL4A4):c.3782G>T (p.Gly1261Val)
NM_000092.5(COL4A4):c.3787C>T (p.Gln1263Ter)
NM_000092.5(COL4A4):c.3809G>A (p.Gly1270Asp)
NM_000092.5(COL4A4):c.3817+1G>A
NM_000092.5(COL4A4):c.3817+1G>T
NM_000092.5(COL4A4):c.383_398del (p.Gly128fs)
NM_000092.5(COL4A4):c.3848G>A (p.Ser1283Asn)
NM_000092.5(COL4A4):c.3850G>A (p.Val1284Ile)
NM_000092.5(COL4A4):c.3866_3870del (p.Gly1289fs)
NM_000092.5(COL4A4):c.386C>G (p.Pro129Arg)
NM_000092.5(COL4A4):c.3882_3883del (p.Cys1294fs) rs2149956832
NM_000092.5(COL4A4):c.3901G>C (p.Gly1301Arg)
NM_000092.5(COL4A4):c.3955G>A (p.Gly1319Arg)
NM_000092.5(COL4A4):c.3967C>T (p.Gln1323Ter) rs1489351299
NM_000092.5(COL4A4):c.3977C>G (p.Pro1326Arg)
NM_000092.5(COL4A4):c.3983G>C (p.Gly1328Ala) rs1553624173
NM_000092.5(COL4A4):c.401G>A (p.Gly134Asp)
NM_000092.5(COL4A4):c.4029A>T (p.Gly1343=)
NM_000092.5(COL4A4):c.4036G>A (p.Gly1346Ser)
NM_000092.5(COL4A4):c.4037G>T (p.Gly1346Val)
NM_000092.5(COL4A4):c.4045G>A (p.Gly1349Arg)
NM_000092.5(COL4A4):c.4046G>T (p.Gly1349Val)
NM_000092.5(COL4A4):c.4058G>A (p.Arg1353Lys) rs747708741
NM_000092.5(COL4A4):c.4063G>A (p.Gly1355Arg) rs1553624029
NM_000092.5(COL4A4):c.4067C>T (p.Pro1356Leu)
NM_000092.5(COL4A4):c.4079del (p.Pro1360fs)
NM_000092.5(COL4A4):c.4080_4081+1delinsAGT
NM_000092.5(COL4A4):c.4081+5G>A
NM_000092.5(COL4A4):c.4081G>T (p.Gly1361Cys)
NM_000092.5(COL4A4):c.4091-10C>T
NM_000092.5(COL4A4):c.4091-1G>A
NM_000092.5(COL4A4):c.4091-8_4092del
NM_000092.5(COL4A4):c.4139G>A (p.Gly1380Asp)
NM_000092.5(COL4A4):c.4151dup (p.Pro1385fs)
NM_000092.5(COL4A4):c.4157G>A (p.Gly1386Asp)
NM_000092.5(COL4A4):c.4165G>A (p.Gly1389Arg)
NM_000092.5(COL4A4):c.4217-7T>A
NM_000092.5(COL4A4):c.4235G>A (p.Gly1412Glu)
NM_000092.5(COL4A4):c.425A>G (p.Asn142Ser)
NM_000092.5(COL4A4):c.4271G>A (p.Gly1424Glu)
NM_000092.5(COL4A4):c.428G>T (p.Gly143Val) rs1553695389
NM_000092.5(COL4A4):c.4315G>T (p.Gly1439Cys)
NM_000092.5(COL4A4):c.4324G>C (p.Gly1442Arg)
NM_000092.5(COL4A4):c.4327G>A (p.Gly1443Arg)
NM_000092.5(COL4A4):c.4333+2T>C rs755927061
NM_000092.5(COL4A4):c.4333+2T>G
NM_000092.5(COL4A4):c.4333+6G>T
NM_000092.5(COL4A4):c.4334-23A>G rs766501515
NM_000092.5(COL4A4):c.4349T>A (p.Ile1450Asn) rs72969704
NM_000092.5(COL4A4):c.4369G>A (p.Gly1457Arg)
NM_000092.5(COL4A4):c.4376G>T (p.Gly1459Val)
NM_000092.5(COL4A4):c.4386C>A (p.Tyr1462Ter)
NM_000092.5(COL4A4):c.4399del (p.Leu1467fs)
NM_000092.5(COL4A4):c.4415G>C (p.Ser1472Thr)
NM_000092.5(COL4A4):c.4424A>T (p.Asp1475Val)
NM_000092.5(COL4A4):c.4440C>A (p.Cys1480Ter)
NM_000092.5(COL4A4):c.4463G>C (p.Trp1488Ser)
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000092.5(COL4A4):c.4470del (p.Tyr1491fs) rs1963392922
NM_000092.5(COL4A4):c.4483_4484del (p.Tyr1495fs)
NM_000092.5(COL4A4):c.4500G>T (p.Glu1500Asp)
NM_000092.5(COL4A4):c.4522+14A>T
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr) rs1962651394
NM_000092.5(COL4A4):c.4556C>T (p.Thr1519Met)
NM_000092.5(COL4A4):c.458G>A (p.Gly153Glu)
NM_000092.5(COL4A4):c.4599T>G (p.Tyr1533Ter) rs369922627
NM_000092.5(COL4A4):c.4645dup (p.Leu1549fs)
NM_000092.5(COL4A4):c.4679G>A (p.Arg1560His)
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs) rs1962591629
NM_000092.5(COL4A4):c.469C>T (p.Leu157Phe)
NM_000092.5(COL4A4):c.4700C>T (p.Ala1567Val)
NM_000092.5(COL4A4):c.4701_4705delinsCC (p.Val1568_Cys1569delinsArg)
NM_000092.5(COL4A4):c.4709A>G (p.Glu1570Gly)
NM_000092.5(COL4A4):c.4738A>G (p.Ser1580Gly)
NM_000092.5(COL4A4):c.4757C>G (p.Pro1586Arg)
NM_000092.5(COL4A4):c.4759C>G (p.Pro1587Ala)
NM_000092.5(COL4A4):c.4760del (p.Pro1587fs) rs1206142672
NM_000092.5(COL4A4):c.4762T>A (p.Cys1588Ser)
NM_000092.5(COL4A4):c.4762T>C (p.Cys1588Arg)
NM_000092.5(COL4A4):c.4776G>C (p.Trp1592Cys)
NM_000092.5(COL4A4):c.4778G>A (p.Arg1593Lys)
NM_000092.5(COL4A4):c.4781_4807dup (p.Ser1594_Leu1602dup) rs2149719615
NM_000092.5(COL4A4):c.4809+17T>A
NM_000092.5(COL4A4):c.4810-6G>A
NM_000092.5(COL4A4):c.4814C>T (p.Thr1605Ile)
NM_000092.5(COL4A4):c.4819G>T (p.Ala1607Ser)
NM_000092.5(COL4A4):c.4829A>T (p.Gln1610Leu)
NM_000092.5(COL4A4):c.482G>T (p.Gly161Val) rs745672795
NM_000092.5(COL4A4):c.4830AGG[2] (p.Gly1613del) rs768416358
NM_000092.5(COL4A4):c.4846C>A (p.Leu1616Ile)
NM_000092.5(COL4A4):c.4846C>G (p.Leu1616Val)
NM_000092.5(COL4A4):c.489+2T>C
NM_000092.5(COL4A4):c.490-6T>G
NM_000092.5(COL4A4):c.4900T>C (p.Cys1634Arg)
NM_000092.5(COL4A4):c.4937A>G (p.Asn1646Ser)
NM_000092.5(COL4A4):c.4943A>G (p.Tyr1648Cys)
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter) rs1408907127
NM_000092.5(COL4A4):c.4969G>A (p.Ala1657Thr)
NM_000092.5(COL4A4):c.5070C>A (p.Ser1690Arg)
NM_000092.5(COL4A4):c.5070C>G (p.Ser1690Arg)
NM_000092.5(COL4A4):c.508G>A (p.Gly170Arg)
NM_000092.5(COL4A4):c.518G>A (p.Gly173Glu)
NM_000092.5(COL4A4):c.544G>A (p.Val182Ile)
NM_000092.5(COL4A4):c.555dup (p.Gln186fs) rs2061393958
NM_000092.5(COL4A4):c.556C>T (p.Gln186Ter)
NM_000092.5(COL4A4):c.560G>T (p.Gly187Val)
NM_000092.5(COL4A4):c.593C>T (p.Pro198Leu)
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.594+1G>C
NM_000092.5(COL4A4):c.595G>A (p.Gly199Arg)
NM_000092.5(COL4A4):c.604G>A (p.Gly202Ser)
NM_000092.5(COL4A4):c.605G>A (p.Gly202Asp)
NM_000092.5(COL4A4):c.610G>A (p.Gly204Arg)
NM_000092.5(COL4A4):c.617C>T (p.Pro206Leu)
NM_000092.5(COL4A4):c.623G>A (p.Gly208Asp)
NM_000092.5(COL4A4):c.623G>T (p.Gly208Val)
NM_000092.5(COL4A4):c.657+1G>T rs1553688696
NM_000092.5(COL4A4):c.659G>A (p.Gly220Glu)
NM_000092.5(COL4A4):c.662del (p.Pro221fs)
NM_000092.5(COL4A4):c.666_667insA (p.Gly223fs)
NM_000092.5(COL4A4):c.673_680del (p.Pro225fs) rs1553688330
NM_000092.5(COL4A4):c.676G>A (p.Gly226Arg)
NM_000092.5(COL4A4):c.685G>A (p.Gly229Ser)
NM_000092.5(COL4A4):c.693+3A>G
NM_000092.5(COL4A4):c.703G>A (p.Gly235Ser)
NM_000092.5(COL4A4):c.704G>A (p.Gly235Asp)
NM_000092.5(COL4A4):c.705_710del (p.235GV[1])
NM_000092.5(COL4A4):c.71+1G>A rs1559742015
NM_000092.5(COL4A4):c.737G>A (p.Gly246Asp) rs1559631986
NM_000092.5(COL4A4):c.737G>C (p.Gly246Ala) rs1559631986
NM_000092.5(COL4A4):c.741G>T (p.Glu247Asp)
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp) rs760795817
NM_000092.5(COL4A4):c.803A>G (p.Tyr268Cys)
NM_000092.5(COL4A4):c.805A>G (p.Lys269Glu) rs2150805428
NM_000092.5(COL4A4):c.816+4A>G
NM_000092.5(COL4A4):c.816G>A (p.Lys272=)
NM_000092.5(COL4A4):c.818G>A (p.Gly273Asp)
NM_000092.5(COL4A4):c.818del
NM_000092.5(COL4A4):c.821T>C (p.Ile274Thr)
NM_000092.5(COL4A4):c.838del (p.Met280fs)
NM_000092.5(COL4A4):c.845G>A (p.Gly282Glu)
NM_000092.5(COL4A4):c.870+1G>C
NM_000092.5(COL4A4):c.895G>A (p.Gly299Arg)
NM_000092.5(COL4A4):c.910C>A (p.Pro304Thr)
NM_000092.5(COL4A4):c.914G>T (p.Gly305Val)
NM_000092.5(COL4A4):c.930+1G>A rs2150787516
NM_000092.5(COL4A4):c.93_94del (p.Ser32fs)
NM_000092.5(COL4A4):c.941G>A (p.Gly314Asp) rs1005389790
NM_000092.5(COL4A4):c.974del (p.Lys325fs)
NM_000092.5(COL4A4):c.975+4A>G
NM_000092.5(COL4A4):c.975G>T (p.Lys325Asn)
NM_000092.5(COL4A4):c.985G>A (p.Gly329Arg)
NM_000092.5(COL4A4):c.989del (p.Leu330fs)
NM_000092.5(COL4A4):c.995G>C (p.Gly332Ala)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.