ClinVar Miner

List of variants in gene combination COL4A3, MFF-DT reported as likely pathogenic for autosomal dominant Alport syndrome

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 331
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00032
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181 0.00008
NM_000091.5(COL4A3):c.1459G>A (p.Gly487Ser) rs745472969 0.00006
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_000091.5(COL4A3):c.4819G>T (p.Glu1607Ter) rs764046610 0.00004
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) rs777401300 0.00003
NM_000091.5(COL4A3):c.3956G>A (p.Gly1319Glu) rs1178734829 0.00003
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913 0.00002
NM_000091.5(COL4A3):c.2535del (p.Leu846fs) rs993103826 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000091.5(COL4A3):c.1114+1G>T rs1286895614 0.00001
NM_000091.5(COL4A3):c.1307G>C (p.Gly436Ala) rs1237274947 0.00001
NM_000091.5(COL4A3):c.1345G>C (p.Gly449Arg) rs760203599 0.00001
NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg) rs757341933 0.00001
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933 0.00001
NM_000091.5(COL4A3):c.1408+1G>C rs1185847791 0.00001
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg) rs1256505387 0.00001
NM_000091.5(COL4A3):c.1523G>A (p.Gly508Asp) rs757774756 0.00001
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg) rs1457269547 0.00001
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249 0.00001
NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg) rs761686437 0.00001
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668 0.00001
NM_000091.5(COL4A3):c.1927+2T>C rs1158937060 0.00001
NM_000091.5(COL4A3):c.2647G>A (p.Gly883Arg) rs1559897288 0.00001
NM_000091.5(COL4A3):c.2747-1G>C rs1196996393 0.00001
NM_000091.5(COL4A3):c.2863G>A (p.Gly955Arg) rs771818723 0.00001
NM_000091.5(COL4A3):c.2962G>A (p.Gly988Arg) rs769683665 0.00001
NM_000091.5(COL4A3):c.317G>C (p.Gly106Ala) rs1043352257 0.00001
NM_000091.5(COL4A3):c.3210+1G>A rs1553762314 0.00001
NM_000091.5(COL4A3):c.3250G>T (p.Glu1084Ter) rs1192750535 0.00001
NM_000091.5(COL4A3):c.3302G>A (p.Gly1101Glu) rs560592940 0.00001
NM_000091.5(COL4A3):c.3338-1G>A rs1344548642 0.00001
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg) rs202147112 0.00001
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) rs778886174 0.00001
NM_000091.5(COL4A3):c.3683G>T (p.Gly1228Val) rs1183958961 0.00001
NM_000091.5(COL4A3):c.3737C>G (p.Ser1246Ter) rs1400784100 0.00001
NM_000091.5(COL4A3):c.4100G>C (p.Gly1367Ala) rs886055742 0.00001
NM_000091.5(COL4A3):c.441G>A (p.Pro147=) rs373559251 0.00001
NM_000091.5(COL4A3):c.4755+1G>A rs1346132592 0.00001
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590 0.00001
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln) rs1380878336 0.00001
NM_000091.5(COL4A3):c.4996A>G (p.Met1666Val) rs759583948 0.00001
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg) rs1014839148 0.00001
NM_000091.5(COL4A3):c.764C>T (p.Thr255Met) rs573527081 0.00001
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328 0.00001
NM_000091.5(COL4A3):c.949_950del (p.Arg317fs) rs756133651 0.00001
NM_000091.5(COL4A3):c.971G>A (p.Gly324Asp) rs566993466 0.00001
NM_000091.5(COL4A3):c.1016G>C (p.Gly339Ala) rs2469594055
NM_000091.5(COL4A3):c.1029+1G>C
NM_000091.5(COL4A3):c.1038T>A (p.Tyr346Ter) rs2469606943
NM_000091.5(COL4A3):c.1046_1047del (p.Thr349fs)
NM_000091.5(COL4A3):c.1087G>T (p.Gly363Trp) rs1559875465
NM_000091.5(COL4A3):c.1114+1G>A rs1286895614
NM_000091.5(COL4A3):c.1114G>T (p.Gly372Cys)
NM_000091.5(COL4A3):c.1132G>A (p.Gly378Arg) rs2125961933
NM_000091.5(COL4A3):c.1143_1150+1del rs1274459294
NM_000091.5(COL4A3):c.1151-1G>A
NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg) rs1574727988
NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg) rs1559878824
NM_000091.5(COL4A3):c.123_124delinsAA (p.Cys41_Asp42delinsTer) rs2469447838
NM_000091.5(COL4A3):c.1252G>A (p.Gly418Arg) rs2469634498
NM_000091.5(COL4A3):c.1261G>A (p.Gly421Ser) rs1363441287
NM_000091.5(COL4A3):c.1262del (p.Gly421fs) rs2125972772
NM_000091.5(COL4A3):c.1271G>T (p.Gly424Val) rs2469634805
NM_000091.5(COL4A3):c.1274C>A (p.Ser425Ter) rs2469634847
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser) rs1553755124
NM_000091.5(COL4A3):c.1321dup (p.Ile441fs)
NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val) rs2070897613
NM_000091.5(COL4A3):c.1373G>T (p.Gly458Val) rs2125981183
NM_000091.5(COL4A3):c.1391G>A (p.Gly464Glu) rs2125981235
NM_000091.5(COL4A3):c.1399G>A (p.Gly467Arg) rs201088233
NM_000091.5(COL4A3):c.1400G>A (p.Gly467Glu)
NM_000091.5(COL4A3):c.1407del (p.Gly470fs) rs766025194
NM_000091.5(COL4A3):c.1408+2T>A
NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu) rs2125982395
NM_000091.5(COL4A3):c.1477G>A (p.Gly493Arg)
NM_000091.5(COL4A3):c.1540G>A (p.Gly514Arg) rs2071142257
NM_000091.5(COL4A3):c.1541G>C (p.Gly514Ala)
NM_000091.5(COL4A3):c.1557del (p.Gly520fs)
NM_000091.5(COL4A3):c.1559G>A (p.Gly520Asp) rs1574745989
NM_000091.5(COL4A3):c.1585G>C (p.Gly529Arg)
NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser) rs779575469
NM_000091.5(COL4A3):c.1595G>A (p.Gly532Asp)
NM_000091.5(COL4A3):c.163G>A (p.Gly55Arg)
NM_000091.5(COL4A3):c.1670G>A (p.Gly557Glu) rs2469684422
NM_000091.5(COL4A3):c.1697G>A (p.Gly566Asp) rs2469684718
NM_000091.5(COL4A3):c.1724G>A (p.Gly575Glu)
NM_000091.5(COL4A3):c.172G>C (p.Gly58Arg)
NM_000091.5(COL4A3):c.1752del (p.Glu585fs)
NM_000091.5(COL4A3):c.1758+1G>A rs1553757096
NM_000091.5(COL4A3):c.1758+3del rs2469685375
NM_000091.5(COL4A3):c.1777G>A (p.Gly593Arg) rs2469699523
NM_000091.5(COL4A3):c.1814G>T (p.Gly605Val) rs2469700028
NM_000091.5(COL4A3):c.1820del (p.Pro607fs)
NM_000091.5(COL4A3):c.1822G>C (p.Gly608Arg)
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg) rs1574753929
NM_000091.5(COL4A3):c.1832G>T (p.Gly611Val)
NM_000091.5(COL4A3):c.1841G>A (p.Gly614Glu)
NM_000091.5(COL4A3):c.1865G>A (p.Gly622Glu) rs2125996486
NM_000091.5(COL4A3):c.1873G>C (p.Gly625Arg) rs2125996501
NM_000091.5(COL4A3):c.1892G>C (p.Gly631Ala)
NM_000091.5(COL4A3):c.1900G>A (p.Gly634Arg) rs1060499696
NM_000091.5(COL4A3):c.1933del (p.Arg645fs) rs1559890140
NM_000091.5(COL4A3):c.1956_1978del (p.Pro653fs) rs2071566709
NM_000091.5(COL4A3):c.1976G>A (p.Gly659Glu) rs2071568063
NM_000091.5(COL4A3):c.2002G>C (p.Gly668Arg) rs1559890352
NM_000091.5(COL4A3):c.2003_2004delinsA (p.Gly668fs)
NM_000091.5(COL4A3):c.2008C>T (p.Gln670Ter)
NM_000091.5(COL4A3):c.2011G>C (p.Gly671Arg)
NM_000091.5(COL4A3):c.2020+1G>A
NM_000091.5(COL4A3):c.2030G>T (p.Gly677Val)
NM_000091.5(COL4A3):c.2039G>A (p.Gly680Glu)
NM_000091.5(COL4A3):c.2048G>A (p.Gly683Glu) rs2106132144
NM_000091.5(COL4A3):c.205G>T (p.Glu69Ter) rs1574658390
NM_000091.5(COL4A3):c.2074G>A (p.Gly692Ser) rs761780956
NM_000091.5(COL4A3):c.2126G>A (p.Gly709Glu) rs1553759430
NM_000091.5(COL4A3):c.2135G>T (p.Gly712Val) rs2071832975
NM_000091.5(COL4A3):c.2143G>A (p.Gly715Ser)
NM_000091.5(COL4A3):c.2180G>A (p.Gly727Glu) rs2106147306
NM_000091.5(COL4A3):c.2188G>A (p.Gly730Arg)
NM_000091.5(COL4A3):c.2189G>A (p.Gly730Glu) rs2071838155
NM_000091.5(COL4A3):c.2207G>T (p.Gly736Val) rs773317939
NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg) rs375040636
NM_000091.5(COL4A3):c.2223+1G>A rs1553759476
NM_000091.5(COL4A3):c.2257G>C (p.Gly753Arg)
NM_000091.5(COL4A3):c.2267G>A (p.Gly756Asp) rs1308023279
NM_000091.5(COL4A3):c.2267G>C (p.Gly756Ala)
NM_000091.5(COL4A3):c.2275G>A (p.Gly759Arg) rs2071886531
NM_000091.5(COL4A3):c.227G>T (p.Gly76Val)
NM_000091.5(COL4A3):c.2284G>C (p.Gly762Arg) rs983885088
NM_000091.5(COL4A3):c.2302G>A (p.Gly768Arg) rs2469754387
NM_000091.5(COL4A3):c.2330G>A (p.Gly777Asp) rs2106151987
NM_000091.5(COL4A3):c.2339del (p.Gly780fs)
NM_000091.5(COL4A3):c.234+1G>A rs1240838887
NM_000091.5(COL4A3):c.234+1_234+2del
NM_000091.5(COL4A3):c.234+1del
NM_000091.5(COL4A3):c.2347G>C (p.Gly783Arg)
NM_000091.5(COL4A3):c.235-2A>T
NM_000091.5(COL4A3):c.236G>A (p.Gly79Asp)
NM_000091.5(COL4A3):c.2384G>A (p.Gly795Glu) rs2469758704
NM_000091.5(COL4A3):c.2390C>T (p.Pro797Leu) rs1283533086
NM_000091.5(COL4A3):c.2390del (p.Pro797fs) rs2469758753
NM_000091.5(COL4A3):c.2392G>A (p.Gly798Arg)
NM_000091.5(COL4A3):c.245G>T (p.Gly82Val)
NM_000091.5(COL4A3):c.2497G>A (p.Gly833Ser) rs2072039168
NM_000091.5(COL4A3):c.2498G>A (p.Gly833Asp) rs779489401
NM_000091.5(COL4A3):c.2507G>A (p.Gly836Glu) rs2072040353
NM_000091.5(COL4A3):c.2507G>T (p.Gly836Val)
NM_000091.5(COL4A3):c.2564_2565del (p.Thr855fs)
NM_000091.5(COL4A3):c.2584G>A (p.Gly862Ser) rs1574782666
NM_000091.5(COL4A3):c.2584G>C (p.Gly862Arg) rs1574782666
NM_000091.5(COL4A3):c.2593G>A (p.Gly865Ser) rs1559897190
NM_000091.5(COL4A3):c.2602G>C (p.Gly868Arg) rs2106164384
NM_000091.5(COL4A3):c.2603G>T (p.Gly868Val)
NM_000091.5(COL4A3):c.2612G>A (p.Gly871Asp) rs1402894646
NM_000091.5(COL4A3):c.2621del (p.Gly874fs) rs759043857
NM_000091.5(COL4A3):c.2629G>A (p.Gly877Arg)
NM_000091.5(COL4A3):c.2656+1G>T rs2469770966
NM_000091.5(COL4A3):c.2657-1G>A rs373324875
NM_000091.5(COL4A3):c.2666G>T (p.Gly889Val) rs2469779404
NM_000091.5(COL4A3):c.2684G>A (p.Gly895Asp) rs1553760558
NM_000091.5(COL4A3):c.2693G>A (p.Gly898Glu) rs2469779686
NM_000091.5(COL4A3):c.2711G>A (p.Gly904Glu) rs1174417447
NM_000091.5(COL4A3):c.2719G>T (p.Gly907Trp)
NM_000091.5(COL4A3):c.272G>T (p.Gly91Val)
NM_000091.5(COL4A3):c.2756G>T (p.Gly919Val) rs1445819062
NM_000091.5(COL4A3):c.275dup (p.Arg93fs)
NM_000091.5(COL4A3):c.2765G>A (p.Gly922Glu)
NM_000091.5(COL4A3):c.279+1G>A rs202001097
NM_000091.5(COL4A3):c.279+1G>C rs202001097
NM_000091.5(COL4A3):c.279+1G>T rs202001097
NM_000091.5(COL4A3):c.280-1G>A
NM_000091.5(COL4A3):c.2838_2839del (p.Glu946fs) rs1553760802
NM_000091.5(COL4A3):c.2864G>A (p.Gly955Glu) rs2106175500
NM_000091.5(COL4A3):c.2864G>T (p.Gly955Val) rs2106175500
NM_000091.5(COL4A3):c.2878A>G (p.Lys960Glu) rs746766677
NM_000091.5(COL4A3):c.289G>A (p.Gly97Arg)
NM_000091.5(COL4A3):c.2945G>A (p.Gly982Asp)
NM_000091.5(COL4A3):c.2954G>A (p.Gly985Glu)
NM_000091.5(COL4A3):c.2957_2972del (p.Leu986fs)
NM_000091.5(COL4A3):c.2962G>C (p.Gly988Arg)
NM_000091.5(COL4A3):c.2981G>A (p.Gly994Asp) rs1574803132
NM_000091.5(COL4A3):c.3007G>A (p.Gly1003Arg)
NM_000091.5(COL4A3):c.3016G>A (p.Gly1006Arg)
NM_000091.5(COL4A3):c.3025G>C (p.Gly1009Arg)
NM_000091.5(COL4A3):c.3026G>C (p.Gly1009Ala) rs1204230457
NM_000091.5(COL4A3):c.3035G>A (p.Gly1012Asp)
NM_000091.5(COL4A3):c.303_324+18del
NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu) rs121912826
NM_000091.5(COL4A3):c.3061G>A (p.Gly1021Ser)
NM_000091.5(COL4A3):c.3068_3069del (p.Pro1023fs) rs1064796094
NM_000091.5(COL4A3):c.3070+1G>A rs2106206598
NM_000091.5(COL4A3):c.3071-2A>G
NM_000091.5(COL4A3):c.3079G>A (p.Gly1027Arg)
NM_000091.5(COL4A3):c.308G>A (p.Gly103Asp)
NM_000091.5(COL4A3):c.3097G>A (p.Gly1033Arg)
NM_000091.5(COL4A3):c.3106G>A (p.Gly1036Ser)
NM_000091.5(COL4A3):c.3116G>A (p.Gly1039Glu) rs2072647561
NM_000091.5(COL4A3):c.3133G>C (p.Gly1045Arg)
NM_000091.5(COL4A3):c.3134G>T (p.Gly1045Val) rs2072649241
NM_000091.5(COL4A3):c.317G>T (p.Gly106Val) rs1043352257
NM_000091.5(COL4A3):c.3203G>A (p.Gly1068Glu)
NM_000091.5(COL4A3):c.3211-1G>T
NM_000091.5(COL4A3):c.324+1G>A rs2125906801
NM_000091.5(COL4A3):c.3248G>A (p.Gly1083Glu)
NM_000091.5(COL4A3):c.3256G>A (p.Gly1086Arg)
NM_000091.5(COL4A3):c.3257G>A (p.Gly1086Glu) rs1574813350
NM_000091.5(COL4A3):c.3275G>A (p.Gly1092Glu) rs1559909513
NM_000091.5(COL4A3):c.3310G>C (p.Gly1104Arg)
NM_000091.5(COL4A3):c.3311G>C (p.Gly1104Ala)
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3337+1del rs1350835100
NM_000091.5(COL4A3):c.3342dup (p.Pro1115fs)
NM_000091.5(COL4A3):c.3383G>A (p.Gly1128Asp) rs2469859573
NM_000091.5(COL4A3):c.3395del (p.Pro1132fs)
NM_000091.5(COL4A3):c.3409G>A (p.Gly1137Ser)
NM_000091.5(COL4A3):c.3409G>C (p.Gly1137Arg)
NM_000091.5(COL4A3):c.3418G>C (p.Gly1140Arg)
NM_000091.5(COL4A3):c.3418G>T (p.Gly1140Cys)
NM_000091.5(COL4A3):c.3419-2A>C
NM_000091.5(COL4A3):c.3427G>A (p.Gly1143Arg) rs1489682011
NM_000091.5(COL4A3):c.344G>C (p.Gly115Ala) rs1408412826
NM_000091.5(COL4A3):c.3454G>A (p.Gly1152Ser) rs749383170
NM_000091.5(COL4A3):c.3455G>A (p.Gly1152Asp) rs867868120
NM_000091.5(COL4A3):c.3463G>A (p.Gly1155Ser) rs774583962
NM_000091.5(COL4A3):c.3463_3464delinsAA (p.Gly1155Asn)
NM_000091.5(COL4A3):c.3491G>A (p.Gly1164Asp) rs2469863799
NM_000091.5(COL4A3):c.3517+1G>T
NM_000091.5(COL4A3):c.3539G>A (p.Gly1180Asp)
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.5(COL4A3):c.3556G>C (p.Gly1186Arg) rs1305836268
NM_000091.5(COL4A3):c.3575G>A (p.Gly1192Glu) rs1574823172
NM_000091.5(COL4A3):c.357del (p.Val120fs)
NM_000091.5(COL4A3):c.3593G>A (p.Gly1198Asp) rs755849032
NM_000091.5(COL4A3):c.3629G>A (p.Gly1210Glu) rs1574823355
NM_000091.5(COL4A3):c.3671del (p.Pro1224fs) rs764376138
NM_000091.5(COL4A3):c.3672del (p.Pro1226fs) rs2073096212
NM_000091.5(COL4A3):c.3674G>A (p.Gly1225Glu)
NM_000091.5(COL4A3):c.3682G>A (p.Gly1228Ser)
NM_000091.5(COL4A3):c.3682G>C (p.Gly1228Arg) rs1559913871
NM_000091.5(COL4A3):c.3683G>A (p.Gly1228Asp)
NM_000091.5(COL4A3):c.370G>C (p.Gly124Arg) rs2469502863
NM_000091.5(COL4A3):c.3715G>A (p.Gly1239Arg) rs2106247498
NM_000091.5(COL4A3):c.3742G>C (p.Gly1248Arg) rs2469880740
NM_000091.5(COL4A3):c.3821G>A (p.Gly1274Asp)
NM_000091.5(COL4A3):c.3839G>A (p.Gly1280Asp)
NM_000091.5(COL4A3):c.3856G>A (p.Gly1286Arg)
NM_000091.5(COL4A3):c.3875G>C (p.Gly1292Ala)
NM_000091.5(COL4A3):c.388-1G>T rs1553750900
NM_000091.5(COL4A3):c.388-2A>G rs2069361375
NM_000091.5(COL4A3):c.3882+5G>C
NM_000091.5(COL4A3):c.3892G>C (p.Gly1298Arg) rs2469904729
NM_000091.5(COL4A3):c.3902G>A (p.Gly1301Asp)
NM_000091.5(COL4A3):c.3919G>A (p.Gly1307Ser)
NM_000091.5(COL4A3):c.3920G>A (p.Gly1307Asp)
NM_000091.5(COL4A3):c.3947G>T (p.Gly1316Val)
NM_000091.5(COL4A3):c.3964G>A (p.Gly1322Ser) rs759739044
NM_000091.5(COL4A3):c.3964G>T (p.Gly1322Cys) rs759739044
NM_000091.5(COL4A3):c.3965G>A (p.Gly1322Asp)
NM_000091.5(COL4A3):c.4009G>A (p.Gly1337Arg)
NM_000091.5(COL4A3):c.4019G>A (p.Gly1340Glu) rs748901402
NM_000091.5(COL4A3):c.4027+1del
NM_000091.5(COL4A3):c.4028-2A>C
NM_000091.5(COL4A3):c.4028-2A>G
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser) rs2073401281
NM_000091.5(COL4A3):c.4108G>A (p.Gly1370Arg) rs1431769783
NM_000091.5(COL4A3):c.4154G>A (p.Gly1385Glu)
NM_000091.5(COL4A3):c.4171G>A (p.Gly1391Ser) rs2106274329
NM_000091.5(COL4A3):c.4190G>A (p.Gly1397Glu)
NM_000091.5(COL4A3):c.4199G>A (p.Gly1400Glu)
NM_000091.5(COL4A3):c.4207G>A (p.Gly1403Arg)
NM_000091.5(COL4A3):c.4235G>T (p.Gly1412Val) rs2073446714
NM_000091.5(COL4A3):c.4252G>C (p.Gly1418Arg) rs2469916768
NM_000091.5(COL4A3):c.4265C>G (p.Ser1422Ter) rs2106283830
NM_000091.5(COL4A3):c.4265_4273del (p.Ser1422_Gly1424del) rs746597831
NM_000091.5(COL4A3):c.4289G>A (p.Gly1430Glu) rs774856700
NM_000091.5(COL4A3):c.4289G>T (p.Gly1430Val)
NM_000091.5(COL4A3):c.4337_4338del (p.Phe1446fs) rs776244020
NM_000091.5(COL4A3):c.4357C>T (p.Gln1453Ter) rs2469931435
NM_000091.5(COL4A3):c.443G>A (p.Gly148Asp)
NM_000091.5(COL4A3):c.448del (p.Ala150fs) rs2469517638
NM_000091.5(COL4A3):c.4531_4534del (p.Cys1511fs) rs2469937169
NM_000091.5(COL4A3):c.4644C>A (p.Cys1548Ter) rs1574842143
NM_000091.5(COL4A3):c.468+1G>T rs1553751122
NM_000091.5(COL4A3):c.468+1del rs1553751120
NM_000091.5(COL4A3):c.4802del (p.Pro1601fs) rs867868993
NM_000091.5(COL4A3):c.4825del (p.Arg1609fs) rs2073715263
NM_000091.5(COL4A3):c.4887_4888del (p.Tyr1629_Ser1630delinsTer)
NM_000091.5(COL4A3):c.4928G>A (p.Arg1643Lys) rs2106295155
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.5(COL4A3):c.519_520delinsAA (p.Gly174Arg) rs1574681401
NM_000091.5(COL4A3):c.522dup (p.Leu175fs) rs761358728
NM_000091.5(COL4A3):c.529G>A (p.Gly177Arg)
NM_000091.5(COL4A3):c.539G>A (p.Gly180Glu)
NM_000091.5(COL4A3):c.560_563del (p.Pro187fs) rs749348004
NM_000091.5(COL4A3):c.576_593del (p.Val194_Pro199del) rs2469543418
NM_000091.5(COL4A3):c.584G>T (p.Gly195Val)
NM_000091.5(COL4A3):c.602G>A (p.Gly201Glu)
NM_000091.5(COL4A3):c.610-1G>A rs2469545357
NM_000091.5(COL4A3):c.646G>T (p.Gly216Cys) rs1169752185
NM_000091.5(COL4A3):c.655G>T (p.Gly219Cys)
NM_000091.5(COL4A3):c.656G>A (p.Gly219Asp) rs2069900248
NM_000091.5(COL4A3):c.656G>T (p.Gly219Val) rs2069900248
NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser) rs2125932297
NM_000091.5(COL4A3):c.689dup rs2469563027
NM_000091.5(COL4A3):c.697G>A (p.Gly233Arg) rs2125932350
NM_000091.5(COL4A3):c.698G>T (p.Gly233Val) rs1453982069
NM_000091.5(COL4A3):c.716G>A (p.Gly239Glu) rs1574699782
NM_000091.5(COL4A3):c.716dup (p.Pro240fs) rs2469563364
NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu) rs1574699806
NM_000091.5(COL4A3):c.765G>T (p.Thr255=) rs869025328
NM_000091.5(COL4A3):c.766-2A>T
NM_000091.5(COL4A3):c.782del (p.Lys261fs)
NM_000091.5(COL4A3):c.802G>A (p.Gly268Ser)
NM_000091.5(COL4A3):c.821G>A (p.Gly274Glu)
NM_000091.5(COL4A3):c.829-1G>A
NM_000091.5(COL4A3):c.833dup (p.Pro279fs) rs1363680371
NM_000091.5(COL4A3):c.838G>A (p.Gly280Arg) rs2070035662
NM_000091.5(COL4A3):c.872G>A (p.Gly291Glu) rs1425230568
NM_000091.5(COL4A3):c.880G>C (p.Gly294Arg) rs2125936494
NM_000091.5(COL4A3):c.917G>T (p.Gly306Val)
NM_000091.5(COL4A3):c.943G>A (p.Gly315Ser)
NM_000091.5(COL4A3):c.944G>A (p.Gly315Asp) rs1287109722
NM_000091.5(COL4A3):c.952G>A (p.Gly318Ser)
NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp) rs1559872489
NM_000091.5(COL4A3):c.962G>C (p.Gly321Ala)
NM_000091.5(COL4A3):c.987+1G>T
NM_000091.5(COL4A3):c.988-5_988delinsAT
NM_000091.5(COL4A3):c.997G>C (p.Gly333Arg)

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