ClinVar Miner

List of variants in gene COL4A4 reported as likely pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 161
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711 0.00010
NM_000092.5(COL4A4):c.3022G>A (p.Gly1008Arg) rs371172166 0.00006
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala) rs548019779 0.00005
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000092.5(COL4A4):c.3743G>A (p.Gly1248Glu) rs548799639 0.00004
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471 0.00002
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460 0.00002
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg) rs755961411 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.1424G>C (p.Gly475Ala) rs1559594442 0.00001
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser) rs181528936 0.00001
NM_000092.5(COL4A4):c.2092G>A (p.Gly698Arg) rs1241404192 0.00001
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser) rs760803228 0.00001
NM_000092.5(COL4A4):c.3317G>A (p.Gly1106Asp) rs1559482299 0.00001
NM_000092.5(COL4A4):c.3452G>C (p.Gly1151Ala) rs371803356 0.00001
NM_000092.5(COL4A4):c.3734G>T (p.Gly1245Val) rs1189502123 0.00001
NM_000092.5(COL4A4):c.4122del (p.Cys1375fs) rs1162601696 0.00001
NM_000092.5(COL4A4):c.4288G>A (p.Gly1430Arg) rs775926807 0.00001
NM_000092.5(COL4A4):c.4522G>A (p.Gly1508Ser) rs1003748020 0.00001
NM_000092.5(COL4A4):c.489+1G>A rs1040287646 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.675dup (p.Gly226fs) rs1553688335 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.975+1G>A rs1553683192 0.00001
NC_000002.11:g.(?_227917001)_(227924979_?)del
NC_000002.11:g.(?_227922145)_(227927324_?)del
NC_000002.11:g.(?_227945139)_(227976449_?)del
NC_000002.11:g.(?_227946821)_(227964415_?)dup
NC_000002.11:g.(?_227973277)_(227974022_?)del
NC_000002.12:g.227030555delinsGAG rs1575895541
NM_000092.4(COL4A4):c.1033delG rs1553681700
NM_000092.4(COL4A4):c.2100_2102delinsGTGT (p.Ser700fs) rs1553644383
NM_000092.5(COL4A4):c.1022G>A (p.Gly341Asp)
NM_000092.5(COL4A4):c.1030-2A>C rs1553681714
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter) rs534522842
NM_000092.5(COL4A4):c.1108G>A (p.Gly370Arg) rs1559617617
NM_000092.5(COL4A4):c.1108G>C (p.Gly370Arg)
NM_000092.5(COL4A4):c.114+1G>A
NM_000092.5(COL4A4):c.114+1G>T rs1553712110
NM_000092.5(COL4A4):c.1259G>A (p.Gly420Glu)
NM_000092.5(COL4A4):c.1293_1310del (p.Lys434_Gly439del) rs1362664502
NM_000092.5(COL4A4):c.1327_1344del (p.Pro444_Leu449del) rs1203564054
NM_000092.5(COL4A4):c.1369+1G>A rs1553676230
NM_000092.5(COL4A4):c.1370-2A>C
NM_000092.5(COL4A4):c.1370-2A>G rs2059823776
NM_000092.5(COL4A4):c.1423G>T (p.Gly475Cys) rs1371408968
NM_000092.5(COL4A4):c.1424G>T (p.Gly475Val) rs1559594442
NM_000092.5(COL4A4):c.1433G>A (p.Gly478Glu)
NM_000092.5(COL4A4):c.1433G>T (p.Gly478Val)
NM_000092.5(COL4A4):c.1460-1G>C rs2150597099
NM_000092.5(COL4A4):c.1579G>C (p.Gly527Arg)
NM_000092.5(COL4A4):c.1580G>A (p.Gly527Asp) rs1358624171
NM_000092.5(COL4A4):c.1696+1G>A rs954701825
NM_000092.5(COL4A4):c.1696+1G>T rs954701825
NM_000092.5(COL4A4):c.1697-1G>A rs1559569975
NM_000092.5(COL4A4):c.1804-2del
NM_000092.5(COL4A4):c.1848del (p.Pro617fs) rs2150476941
NM_000092.5(COL4A4):c.1855G>A (p.Gly619Ser) rs2150476860
NM_000092.5(COL4A4):c.192+1G>T rs2125291407
NM_000092.5(COL4A4):c.1988-2A>T rs1576238292
NM_000092.5(COL4A4):c.2030G>A (p.Gly677Asp)
NM_000092.5(COL4A4):c.2039G>A (p.Gly680Asp) rs1553646081
NM_000092.5(COL4A4):c.2057-1G>A rs2150288556
NM_000092.5(COL4A4):c.2137_2164+23del
NM_000092.5(COL4A4):c.2174G>A (p.Gly725Asp) rs2150277040
NM_000092.5(COL4A4):c.2270G>A (p.Gly757Glu)
NM_000092.5(COL4A4):c.2303G>T (p.Gly768Val)
NM_000092.5(COL4A4):c.2320G>A (p.Gly774Ser)
NM_000092.5(COL4A4):c.2374G>A (p.Gly792Arg) rs768003309
NM_000092.5(COL4A4):c.2420del (p.Gly807fs) rs786205640
NM_000092.5(COL4A4):c.2456G>T (p.Gly819Val) rs1576189036
NM_000092.5(COL4A4):c.2528G>A (p.Gly843Glu) rs1559515185
NM_000092.5(COL4A4):c.2545+1G>A
NM_000092.5(COL4A4):c.2545+2T>G rs1559515075
NM_000092.5(COL4A4):c.2546-1G>A
NM_000092.5(COL4A4):c.2546-1G>C rs1553641728
NM_000092.5(COL4A4):c.2653G>C (p.Gly885Arg)
NM_000092.5(COL4A4):c.2699del (p.Gly900fs)
NM_000092.5(COL4A4):c.2716+2T>A
NM_000092.5(COL4A4):c.2717-2A>G rs2150221409
NM_000092.5(COL4A4):c.282_283del (p.Asp96fs) rs1559677146
NM_000092.5(COL4A4):c.2861-10A>G
NM_000092.5(COL4A4):c.2870G>T (p.Gly957Val) rs1559503562
NM_000092.5(COL4A4):c.2969G>A (p.Gly990Asp)
NM_000092.5(COL4A4):c.3023G>A (p.Gly1008Glu)
NM_000092.5(COL4A4):c.3124G>A (p.Gly1042Ser)
NM_000092.5(COL4A4):c.3154G>T (p.Glu1052Ter)
NM_000092.5(COL4A4):c.3169G>A (p.Gly1057Ser)
NM_000092.5(COL4A4):c.3214+1G>A rs747167770
NM_000092.5(COL4A4):c.3214+2T>A
NM_000092.5(COL4A4):c.3215-1G>A
NM_000092.5(COL4A4):c.327+1_327+5del
NM_000092.5(COL4A4):c.3272G>A (p.Gly1091Asp)
NM_000092.5(COL4A4):c.328-1G>A rs754669149
NM_000092.5(COL4A4):c.3289+1G>T rs1973128133
NM_000092.5(COL4A4):c.3308G>C (p.Gly1103Ala)
NM_000092.5(COL4A4):c.3397+1G>C rs1212090722
NM_000092.5(COL4A4):c.3398-1G>T
NM_000092.5(COL4A4):c.3506-13_3528del rs2149993330
NM_000092.5(COL4A4):c.3577+1G>A
NM_000092.5(COL4A4):c.3577+3A>T rs786205548
NM_000092.5(COL4A4):c.3577G>T (p.Gly1193Cys) rs1158350974
NM_000092.5(COL4A4):c.3578-2A>G
NM_000092.5(COL4A4):c.373-2A>G rs2125001412
NM_000092.5(COL4A4):c.3791G>T (p.Gly1264Val)
NM_000092.5(COL4A4):c.3817+2T>C
NM_000092.5(COL4A4):c.3818-1G>A
NM_000092.5(COL4A4):c.3842dup (p.Gly1282fs) rs1575895799
NM_000092.5(COL4A4):c.3875G>A (p.Gly1292Asp) rs971779449
NM_000092.5(COL4A4):c.3973+1G>A
NM_000092.5(COL4A4):c.3973+1G>T rs755478262
NM_000092.5(COL4A4):c.3973G>T (p.Gly1325Ter) rs764872559
NM_000092.5(COL4A4):c.4082-2A>G
NM_000092.5(COL4A4):c.4090+2T>G
NM_000092.5(COL4A4):c.4091-1G>A
NM_000092.5(COL4A4):c.4091-8_4092del
NM_000092.5(COL4A4):c.4175G>C (p.Gly1392Ala) rs1559429663
NM_000092.5(COL4A4):c.4216+1del rs1064796549
NM_000092.5(COL4A4):c.4217-1G>A rs1161487989
NM_000092.5(COL4A4):c.428G>T (p.Gly143Val) rs1553695389
NM_000092.5(COL4A4):c.4311_4315dup (p.Gly1439fs) rs1559406956
NM_000092.5(COL4A4):c.4333+1G>T rs1963883799
NM_000092.5(COL4A4):c.4333+2T>C rs755927061
NM_000092.5(COL4A4):c.4334-23A>G rs766501515
NM_000092.5(COL4A4):c.4429G>T (p.Glu1477Ter) rs1367906290
NM_000092.5(COL4A4):c.445G>A (p.Gly149Arg)
NM_000092.5(COL4A4):c.446G>A (p.Gly149Glu)
NM_000092.5(COL4A4):c.4522+1G>T rs2149743261
NM_000092.5(COL4A4):c.4548_4549del (p.Val1516_Phe1517insTer) rs2149722809
NM_000092.5(COL4A4):c.4760del (p.Pro1587fs) rs1206142672
NM_000092.5(COL4A4):c.4781_4807dup (p.Ser1594_Leu1602dup) rs2149719615
NM_000092.5(COL4A4):c.4820del (p.Ala1607fs) rs1559394354
NM_000092.5(COL4A4):c.482G>T (p.Gly161Val) rs745672795
NM_000092.5(COL4A4):c.490-1G>C
NM_000092.5(COL4A4):c.490-1G>T
NM_000092.5(COL4A4):c.4900T>C (p.Cys1634Arg)
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter) rs1408907127
NM_000092.5(COL4A4):c.5044del (p.Arg1682fs) rs2149713086
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.595-2A>G
NM_000092.5(COL4A4):c.657+1G>T rs1553688696
NM_000092.5(COL4A4):c.658-2A>G rs2061011908
NM_000092.5(COL4A4):c.693+2T>C
NM_000092.5(COL4A4):c.72-1G>T rs2063421489
NM_000092.5(COL4A4):c.737G>A (p.Gly246Asp) rs1559631986
NM_000092.5(COL4A4):c.784_790del (p.Pro262fs) rs2150805752
NM_000092.5(COL4A4):c.816+2T>G
NM_000092.5(COL4A4):c.817-1G>A rs2150794687
NM_000092.5(COL4A4):c.817-1G>C rs2150794687
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000092.5(COL4A4):c.871-1G>A rs375450996
NM_000092.5(COL4A4):c.871-1G>C rs375450996
NM_000092.5(COL4A4):c.914_930+29del rs1553683757
NM_000092.5(COL4A4):c.930+1G>A rs2150787516
NM_000092.5(COL4A4):c.975+2T>C
NM_000092.5(COL4A4):c.976-2A>G
NM_000092.5(COL4A4):c.977G>A (p.Gly326Glu) rs2150773718
NM_000092.5(COL4A4):c.985G>A (p.Gly329Arg)

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