ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive Alport syndrome; Hematuria, benign familial, 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 249
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652 0.00008
NM_000092.5(COL4A4):c.3120C>A (p.Phe1040Leu) rs749738744 0.00008
NM_000092.5(COL4A4):c.3532G>A (p.Gly1178Ser) rs780504632 0.00007
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala) rs548019779 0.00005
NM_000092.5(COL4A4):c.4235G>A (p.Gly1412Glu) rs201996712 0.00005
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser) rs760803228 0.00003
NM_000092.5(COL4A4):c.3089G>A (p.Gly1030Asp) rs772699709 0.00003
NM_000092.5(COL4A4):c.3461G>A (p.Gly1154Asp) rs775698697 0.00003
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460 0.00002
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg) rs372606845 0.00002
NM_000092.5(COL4A4):c.735G>A (p.Pro245=) rs923865420 0.00002
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235 0.00001
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=) rs778832152 0.00001
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109 0.00001
NM_000092.5(COL4A4):c.193G>A (p.Gly65Ser) rs776036994 0.00001
NM_000092.5(COL4A4):c.2092G>A (p.Gly698Arg) rs1241404192 0.00001
NM_000092.5(COL4A4):c.2447G>A (p.Gly816Glu) rs371817534 0.00001
NM_000092.5(COL4A4):c.2536G>A (p.Gly846Ser) rs1431303701 0.00001
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu) rs769138971 0.00001
NM_000092.5(COL4A4):c.3214+2T>A rs778161679 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.4037G>T (p.Gly1346Val) rs933331654 0.00001
NM_000092.5(COL4A4):c.4091G>T (p.Gly1364Val) rs770364064 0.00001
NM_000092.5(COL4A4):c.4333+3A>G rs1455105815 0.00001
NM_000092.5(COL4A4):c.4376G>T (p.Gly1459Val) rs1287040507 0.00001
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr) rs1962651394 0.00001
NM_000092.5(COL4A4):c.4817G>A (p.Gly1606Glu) rs767901025 0.00001
NM_000092.5(COL4A4):c.4900T>C (p.Cys1634Arg) rs1559393934 0.00001
NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724 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.666_667insA (p.Gly223fs) rs2475788149 0.00001
NM_000092.5(COL4A4):c.754G>A (p.Gly252Ser) rs2060673883 0.00001
NM_000092.5(COL4A4):c.817G>T (p.Gly273Cys) rs762043158 0.00001
NM_000092.5(COL4A4):c.975+1G>A rs1553683192 0.00001
NM_000092.5(COL4A4):c.985G>A (p.Gly329Arg) rs1162654150 0.00001
NC_000002.12:g.227030555delinsGAG rs1575895541
NM_000092.4(COL4A4):c.1321_1369+3del rs1553676221
NM_000092.5(COL4A4):c.1003G>T (p.Gly335Trp)
NM_000092.5(COL4A4):c.1022G>A (p.Gly341Asp) rs2475529342
NM_000092.5(COL4A4):c.1029+2T>C rs1553682895
NM_000092.5(COL4A4):c.1030-2A>C rs1553681714
NM_000092.5(COL4A4):c.1049G>A (p.Gly350Glu)
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.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.1169del (p.Pro390fs) rs2475418667
NM_000092.5(COL4A4):c.1172G>A (p.Gly391Asp)
NM_000092.5(COL4A4):c.1205-1_1205delinsC
NM_000092.5(COL4A4):c.1222G>A (p.Gly408Arg)
NM_000092.5(COL4A4):c.1240G>A (p.Gly414Ser)
NM_000092.5(COL4A4):c.1240G>C (p.Gly414Arg) rs373150214
NM_000092.5(COL4A4):c.1241G>A (p.Gly414Asp) rs2150687507
NM_000092.5(COL4A4):c.1267G>A (p.Gly423Ser)
NM_000092.5(COL4A4):c.1268G>A (p.Gly423Asp)
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) rs2060086619
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.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.1499G>T (p.Gly500Val)
NM_000092.5(COL4A4):c.1553G>A (p.Gly518Glu) rs564334744
NM_000092.5(COL4A4):c.1554del (p.Leu519fs) rs2059734968
NM_000092.5(COL4A4):c.1565G>A (p.Trp522Ter)
NM_000092.5(COL4A4):c.1624-2A>G
NM_000092.5(COL4A4):c.1652G>A (p.Gly551Asp) rs2059360185
NM_000092.5(COL4A4):c.1696+1G>A rs954701825
NM_000092.5(COL4A4):c.1697-2A>C
NM_000092.5(COL4A4):c.1777G>T (p.Gly593Ter)
NM_000092.5(COL4A4):c.1804-1G>C
NM_000092.5(COL4A4):c.1874G>A (p.Gly625Glu)
NM_000092.5(COL4A4):c.1915G>C (p.Gly639Arg)
NM_000092.5(COL4A4):c.1921C>T (p.Arg641Ter) rs778345125
NM_000092.5(COL4A4):c.1925G>T (p.Gly642Val)
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.1961del (p.Gly654fs)
NM_000092.5(COL4A4):c.1987+1G>A rs2150474860
NM_000092.5(COL4A4):c.1988-2A>G
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.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.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.2270G>A (p.Gly757Glu) rs2474221510
NM_000092.5(COL4A4):c.2302G>T (p.Gly768Ter)
NM_000092.5(COL4A4):c.2399del (p.Pro800fs)
NM_000092.5(COL4A4):c.2402G>A (p.Gly801Glu) rs200814061
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val) rs200814061
NM_000092.5(COL4A4):c.2419G>T (p.Gly807Cys)
NM_000092.5(COL4A4):c.2456G>T (p.Gly819Val) rs1576189036
NM_000092.5(COL4A4):c.2464G>C (p.Gly822Arg)
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.2545+1G>A rs2474160561
NM_000092.5(COL4A4):c.2546-1G>C rs1553641728
NM_000092.5(COL4A4):c.2555G>A (p.Gly852Asp) rs2474124227
NM_000092.5(COL4A4):c.2563G>A (p.Gly855Arg)
NM_000092.5(COL4A4):c.2575del (p.Asp859fs)
NM_000092.5(COL4A4):c.2599G>A (p.Gly867Arg) rs768902127
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) rs2474121090
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.2644_2647delinsTCCAGGAGGCCT (p.Gly882fs)
NM_000092.5(COL4A4):c.2662G>A (p.Gly888Arg) rs1363277825
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.2892_2893insC (p.Met965fs)
NM_000092.5(COL4A4):c.2896dup (p.Ala966fs)
NM_000092.5(COL4A4):c.292G>A (p.Gly98Ser)
NM_000092.5(COL4A4):c.292_293dup (p.Pro99fs) rs2476238585
NM_000092.5(COL4A4):c.2932G>C (p.Gly978Arg) rs759439914
NM_000092.5(COL4A4):c.2968+1G>A
NM_000092.5(COL4A4):c.2986G>T (p.Gly996Trp) rs370474706
NM_000092.5(COL4A4):c.3013G>A (p.Gly1005Arg)
NM_000092.5(COL4A4):c.3052G>A (p.Gly1018Ser)
NM_000092.5(COL4A4):c.3071_3074del (p.Gly1024fs)
NM_000092.5(COL4A4):c.3073CCT[3] (p.Pro1026_Gly1027insPro) rs2473970855
NM_000092.5(COL4A4):c.3086del (p.Pro1029fs)
NM_000092.5(COL4A4):c.3087del (p.Gly1030fs)
NM_000092.5(COL4A4):c.3142G>T (p.Gly1048Cys) rs2473967144
NM_000092.5(COL4A4):c.3152G>C (p.Gly1051Ala) rs1973765207
NM_000092.5(COL4A4):c.3161G>T (p.Gly1054Val)
NM_000092.5(COL4A4):c.3177del (p.Gly1060fs) rs2473939910
NM_000092.5(COL4A4):c.3178G>C (p.Gly1060Arg)
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.3214+1G>A rs747167770
NM_000092.5(COL4A4):c.3214+1G>T rs747167770
NM_000092.5(COL4A4):c.327+1_327+5del rs2476235922
NM_000092.5(COL4A4):c.328-1G>A rs754669149
NM_000092.5(COL4A4):c.3289+1G>C rs1973128133
NM_000092.5(COL4A4):c.3290-2A>C
NM_000092.5(COL4A4):c.3310_3313dup (p.Gln1105fs) rs1971796422
NM_000092.5(COL4A4):c.3312del (p.Glu1104fs) rs2473719440
NM_000092.5(COL4A4):c.3313del (p.Gln1105fs)
NM_000092.5(COL4A4):c.3316G>A (p.Gly1106Ser)
NM_000092.5(COL4A4):c.3331C>T (p.Gln1111Ter) rs2473718276
NM_000092.5(COL4A4):c.3352G>A (p.Gly1118Arg)
NM_000092.5(COL4A4):c.3415G>C (p.Gly1139Arg)
NM_000092.5(COL4A4):c.3424_3425del (p.Gly1142fs)
NM_000092.5(COL4A4):c.3469G>C (p.Gly1157Arg)
NM_000092.5(COL4A4):c.3470G>A (p.Gly1157Glu)
NM_000092.5(COL4A4):c.3488G>A (p.Gly1163Asp) rs1559480099
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.3523G>C (p.Gly1175Arg)
NM_000092.5(COL4A4):c.3577+2T>G
NM_000092.5(COL4A4):c.3578-2A>C
NM_000092.5(COL4A4):c.3679G>C (p.Gly1227Arg)
NM_000092.5(COL4A4):c.3689G>C (p.Gly1230Ala) rs1968566020
NM_000092.5(COL4A4):c.3689G>T (p.Gly1230Val)
NM_000092.5(COL4A4):c.3698G>C (p.Gly1233Ala)
NM_000092.5(COL4A4):c.3716G>C (p.Gly1239Ala) rs1394140383
NM_000092.5(COL4A4):c.3722_3740del (p.Pro1241fs)
NM_000092.5(COL4A4):c.3787C>T (p.Gln1263Ter)
NM_000092.5(COL4A4):c.3809G>A (p.Gly1270Asp)
NM_000092.5(COL4A4):c.383_398del (p.Gly128fs)
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.3983G>C (p.Gly1328Ala) rs1553624173
NM_000092.5(COL4A4):c.401G>A (p.Gly134Asp)
NM_000092.5(COL4A4):c.4036G>A (p.Gly1346Ser) rs770838029
NM_000092.5(COL4A4):c.4045G>A (p.Gly1349Arg) rs2149924555
NM_000092.5(COL4A4):c.4046G>T (p.Gly1349Val)
NM_000092.5(COL4A4):c.4063G>A (p.Gly1355Arg) rs1553624029
NM_000092.5(COL4A4):c.4079del (p.Pro1360fs) rs1967312678
NM_000092.5(COL4A4):c.4080_4081+1delinsAGT
NM_000092.5(COL4A4):c.4081G>T (p.Gly1361Cys)
NM_000092.5(COL4A4):c.4091-1G>A
NM_000092.5(COL4A4):c.4091-8_4092del rs2473010935
NM_000092.5(COL4A4):c.410G>A (p.Gly137Asp) rs377511303
NM_000092.5(COL4A4):c.4151dup (p.Pro1385fs) rs2473007651
NM_000092.5(COL4A4):c.4157G>A (p.Gly1386Asp)
NM_000092.5(COL4A4):c.4165G>A (p.Gly1389Arg) rs200645919
NM_000092.5(COL4A4):c.4271G>A (p.Gly1424Glu) rs2472735687
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.4333+2T>C rs755927061
NM_000092.5(COL4A4):c.4333+2T>G
NM_000092.5(COL4A4):c.4334-23A>G rs766501515
NM_000092.5(COL4A4):c.4386C>A (p.Tyr1462Ter) rs2472680030
NM_000092.5(COL4A4):c.4399del (p.Leu1467fs) rs2472679125
NM_000092.5(COL4A4):c.4440C>A (p.Cys1480Ter) rs774471575
NM_000092.5(COL4A4):c.4483_4484del (p.Tyr1495fs)
NM_000092.5(COL4A4):c.458G>A (p.Gly153Glu)
NM_000092.5(COL4A4):c.4645dup (p.Leu1549fs)
NM_000092.5(COL4A4):c.4760del (p.Pro1587fs) rs1206142672
NM_000092.5(COL4A4):c.4762T>A (p.Cys1588Ser) rs2472603497
NM_000092.5(COL4A4):c.4762T>C (p.Cys1588Arg) rs2472603497
NM_000092.5(COL4A4):c.4781_4807dup (p.Ser1594_Leu1602dup) rs2149719615
NM_000092.5(COL4A4):c.482G>T (p.Gly161Val) rs745672795
NM_000092.5(COL4A4):c.489+2T>C
NM_000092.5(COL4A4):c.490-6T>G
NM_000092.5(COL4A4):c.508G>A (p.Gly170Arg) rs2061396039
NM_000092.5(COL4A4):c.556C>T (p.Gln186Ter) rs1351388457
NM_000092.5(COL4A4):c.560G>T (p.Gly187Val)
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.594+1G>C
NM_000092.5(COL4A4):c.604G>A (p.Gly202Ser)
NM_000092.5(COL4A4):c.605G>A (p.Gly202Asp)
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.673_680del (p.Pro225fs) rs1553688330
NM_000092.5(COL4A4):c.676G>A (p.Gly226Arg) rs2475786944
NM_000092.5(COL4A4):c.685G>A (p.Gly229Ser)
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.816+4A>G
NM_000092.5(COL4A4):c.818G>A (p.Gly273Asp)
NM_000092.5(COL4A4):c.818del
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) rs757578262
NM_000092.5(COL4A4):c.914G>T (p.Gly305Val)
NM_000092.5(COL4A4):c.930+1G>A rs2150787516
NM_000092.5(COL4A4):c.975G>T (p.Lys325Asn)
NM_000092.5(COL4A4):c.995G>C (p.Gly332Ala)

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