ClinVar Miner

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

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Total variants: 105
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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.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) rs777401300 0.00003
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
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.2863G>A (p.Gly955Arg) rs771818723 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.4826G>A (p.Arg1609Gln) rs1380878336 0.00001
NM_000091.5(COL4A3):c.4996A>G (p.Met1666Val) rs759583948 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.971G>A (p.Gly324Asp) rs566993466 0.00001
NM_000091.5(COL4A3):c.1016G>C (p.Gly339Ala) rs2469594055
NM_000091.5(COL4A3):c.1038T>A (p.Tyr346Ter) rs2469606943
NM_000091.5(COL4A3):c.1087G>T (p.Gly363Trp) rs1559875465
NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg) rs1574727988
NM_000091.5(COL4A3):c.123_124delinsAA (p.Cys41_Asp42delinsTer) rs2469447838
NM_000091.5(COL4A3):c.1261G>A (p.Gly421Ser) rs1363441287
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.1373G>T (p.Gly458Val) rs2125981183
NM_000091.5(COL4A3):c.1399G>A (p.Gly467Arg) rs201088233
NM_000091.5(COL4A3):c.1408+2T>A
NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu) rs2125982395
NM_000091.5(COL4A3):c.1557del (p.Gly520fs)
NM_000091.5(COL4A3):c.1559G>A (p.Gly520Asp) rs1574745989
NM_000091.5(COL4A3):c.1697G>A (p.Gly566Asp) rs2469684718
NM_000091.5(COL4A3):c.1724G>A (p.Gly575Glu)
NM_000091.5(COL4A3):c.1758+3del rs2469685375
NM_000091.5(COL4A3):c.1814G>T (p.Gly605Val) rs2469700028
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg) rs1574753929
NM_000091.5(COL4A3):c.1841G>A (p.Gly614Glu)
NM_000091.5(COL4A3):c.2002G>C (p.Gly668Arg) rs1559890352
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.2267G>A (p.Gly756Asp) rs1308023279
NM_000091.5(COL4A3):c.2275G>A (p.Gly759Arg) rs2071886531
NM_000091.5(COL4A3):c.2284G>C (p.Gly762Arg) rs983885088
NM_000091.5(COL4A3):c.2330G>A (p.Gly777Asp) rs2106151987
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.2584G>A (p.Gly862Ser) rs1574782666
NM_000091.5(COL4A3):c.2584G>C (p.Gly862Arg) rs1574782666
NM_000091.5(COL4A3):c.2603G>T (p.Gly868Val)
NM_000091.5(COL4A3):c.2612G>A (p.Gly871Asp) rs1402894646
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.279+1G>C rs202001097
NM_000091.5(COL4A3):c.2864G>A (p.Gly955Glu) 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.2981G>A (p.Gly994Asp) rs1574803132
NM_000091.5(COL4A3):c.3025G>C (p.Gly1009Arg)
NM_000091.5(COL4A3):c.303_324+18del
NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu) rs121912826
NM_000091.5(COL4A3):c.317G>T (p.Gly106Val) rs1043352257
NM_000091.5(COL4A3):c.3275G>A (p.Gly1092Glu) rs1559909513
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3383G>A (p.Gly1128Asp) rs2469859573
NM_000091.5(COL4A3):c.3418G>C (p.Gly1140Arg)
NM_000091.5(COL4A3):c.3454G>A (p.Gly1152Ser) rs749383170
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.3629G>A (p.Gly1210Glu) rs1574823355
NM_000091.5(COL4A3):c.3672del (p.Pro1226fs) rs2073096212
NM_000091.5(COL4A3):c.370G>C (p.Gly124Arg) rs2469502863
NM_000091.5(COL4A3):c.3742G>C (p.Gly1248Arg) rs2469880740
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>T (p.Gly1322Cys) rs759739044
NM_000091.5(COL4A3):c.4019G>A (p.Gly1340Glu) rs748901402
NM_000091.5(COL4A3):c.4108G>A (p.Gly1370Arg) rs1431769783
NM_000091.5(COL4A3):c.4199G>A (p.Gly1400Glu)
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.4289G>A (p.Gly1430Glu) rs774856700
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.576_593del (p.Val194_Pro199del) rs2469543418
NM_000091.5(COL4A3):c.655G>T (p.Gly219Cys)
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.725G>A (p.Gly242Glu) rs1574699806
NM_000091.5(COL4A3):c.838G>A (p.Gly280Arg) rs2070035662
NM_000091.5(COL4A3):c.880G>C (p.Gly294Arg) rs2125936494
NM_000091.5(COL4A3):c.944G>A (p.Gly315Asp) rs1287109722
NM_000091.5(COL4A3):c.962G>C (p.Gly321Ala)

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