ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 238
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) rs35138315 0.00011
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711 0.00010
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652 0.00008
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 0.00004
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.2752G>A (p.Gly918Arg) rs372606845 0.00002
NM_000092.5(COL4A4):c.2878G>A (p.Gly960Arg) rs769783985 0.00002
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg) rs755961411 0.00002
NM_000092.5(COL4A4):c.105T>G (p.Tyr35Ter) rs756672670 0.00001
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.1405G>T (p.Gly469Ter) rs926605269 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.1856G>A (p.Gly619Asp) rs374340855 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.2092G>A (p.Gly698Arg) rs1241404192 0.00001
NM_000092.5(COL4A4):c.2510G>C (p.Gly837Ala) rs201648982 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.3307G>A (p.Gly1103Arg) rs749299357 0.00001
NM_000092.5(COL4A4):c.4122del (p.Cys1375fs) rs1162601696 0.00001
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861 0.00001
NM_000092.5(COL4A4):c.4449_4450dup (p.Met1484fs) rs761200469 0.00001
NM_000092.5(COL4A4):c.4623C>G (p.Tyr1541Ter) rs891854419 0.00001
NM_000092.5(COL4A4):c.4787G>A (p.Trp1596Ter) rs1222429942 0.00001
NM_000092.5(COL4A4):c.489+1G>A rs1040287646 0.00001
NM_000092.5(COL4A4):c.675dup (p.Gly226fs) rs1553688335 0.00001
NM_000092.5(COL4A4):c.735G>A (p.Pro245=) rs923865420 0.00001
NC_000002.11:g.(?_227872031)_(227873030_?)del
NC_000002.11:g.(?_227872031)_(227985874_?)del
NC_000002.11:g.(?_227872041)_(227872324_?)del
NC_000002.11:g.(?_227892598)_(227974022_?)del
NC_000002.11:g.(?_227914764)_(227917148_?)del
NC_000002.11:g.(?_227946821)_(227946913_?)del
NC_000002.11:g.(?_227963400)_(227966635_?)del
NC_000002.12:g.(?_227147403)_(227147493_?)del
NC_000002.12:g.227094281_227094290del rs2150688207
NM_000092.4(COL4A4):c.1321_1369+3del rs1553676221
NM_000092.4(COL4A4):c.2385del rs1975778377
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter) rs534522842
NM_000092.5(COL4A4):c.1099+1G>A
NM_000092.5(COL4A4):c.1099+1G>T rs1372782305
NM_000092.5(COL4A4):c.1099G>A (p.Gly367Ser) rs764981982
NM_000092.5(COL4A4):c.1143_1144del (p.Asp383fs) rs2150739953
NM_000092.5(COL4A4):c.1161dup (p.Gly388fs) rs1576486164
NM_000092.5(COL4A4):c.1169del (p.Pro390fs)
NM_000092.5(COL4A4):c.1172del (p.Gly391fs)
NM_000092.5(COL4A4):c.118G>T (p.Gly40Ter) rs2125292585
NM_000092.5(COL4A4):c.1200dup (p.Ala401fs) rs2150739132
NM_000092.5(COL4A4):c.1220del (p.Pro407fs) rs1396423880
NM_000092.5(COL4A4):c.1221_1237del (p.Gly408fs) rs1559606445
NM_000092.5(COL4A4):c.1221del (p.Pro409fs) rs1576457876
NM_000092.5(COL4A4):c.1222_1235del (p.Gly408fs) rs2150687684
NM_000092.5(COL4A4):c.1247del (p.Pro416fs) rs2150687380
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del) rs773081522
NM_000092.5(COL4A4):c.1366del (p.Ser456fs)
NM_000092.5(COL4A4):c.1389del (p.Asn464fs) rs1576428862
NM_000092.5(COL4A4):c.1402C>T (p.Gln468Ter) rs2059821994
NM_000092.5(COL4A4):c.1430del (p.Pro477fs)
NM_000092.5(COL4A4):c.1440del (p.Gly481fs) rs2150616126
NM_000092.5(COL4A4):c.1449dup (p.Gly484fs) rs2150615820
NM_000092.5(COL4A4):c.1459+1G>A
NM_000092.5(COL4A4):c.1476_1477del (p.Ala493fs) rs2150596830
NM_000092.5(COL4A4):c.1531C>T (p.Gln511Ter) rs2150595867
NM_000092.5(COL4A4):c.156C>A (p.Cys52Ter) rs2125291854
NM_000092.5(COL4A4):c.1580del (p.Gly527fs) rs2059732983
NM_000092.5(COL4A4):c.1603G>T (p.Glu535Ter) rs1553669674
NM_000092.5(COL4A4):c.1623+1G>A rs1559590037
NM_000092.5(COL4A4):c.1649_1656del (p.Pro550fs)
NM_000092.5(COL4A4):c.1696+1del rs2150523233
NM_000092.5(COL4A4):c.1706del (p.Gly569fs)
NM_000092.5(COL4A4):c.1715G>C (p.Gly572Ala) rs1446915781
NM_000092.5(COL4A4):c.1716del (p.Pro573fs)
NM_000092.5(COL4A4):c.1730dup (p.Gly578fs)
NM_000092.5(COL4A4):c.1733G>T (p.Gly578Val)
NM_000092.5(COL4A4):c.1768G>T (p.Gly590Ter) rs2150505661
NM_000092.5(COL4A4):c.1785dup (p.Gly596fs) rs2150505385
NM_000092.5(COL4A4):c.182dup (p.Ser63fs)
NM_000092.5(COL4A4):c.1848del (p.Pro617fs) rs2150476941
NM_000092.5(COL4A4):c.1856_1857insT (p.Gly622fs)
NM_000092.5(COL4A4):c.185_186dup (p.Ser63fs) rs2125291573
NM_000092.5(COL4A4):c.1862del (p.Pro621fs) rs2150476732
NM_000092.5(COL4A4):c.1889del (p.Pro630fs) rs757688183
NM_000092.5(COL4A4):c.1891G>T (p.Gly631Ter)
NM_000092.5(COL4A4):c.193-2A>C rs2125038490
NM_000092.5(COL4A4):c.1966del (p.Asp656fs) rs2150475193
NM_000092.5(COL4A4):c.2029G>A (p.Gly677Ser) rs1977400475
NM_000092.5(COL4A4):c.2110G>A (p.Gly704Arg) rs1379525680
NM_000092.5(COL4A4):c.2160_2163dup (p.Gly722fs) rs1976595425
NM_000092.5(COL4A4):c.2168_2169dup (p.Arg724fs) rs2150277252
NM_000092.5(COL4A4):c.2171del (p.Arg724fs) rs1576207007
NM_000092.5(COL4A4):c.2196del (p.Phe732fs) rs2150276476
NM_000092.5(COL4A4):c.2215_2236del (p.Ser739fs) rs2150275655
NM_000092.5(COL4A4):c.2219_2220del (p.Pro740fs) rs2150276003
NM_000092.5(COL4A4):c.2219dup (p.Val741fs) rs141127013
NM_000092.5(COL4A4):c.2232dup (p.Gly745fs) rs1976356392
NM_000092.5(COL4A4):c.2251G>T (p.Gly751Ter) rs2150275391
NM_000092.5(COL4A4):c.2279dup (p.Asp761fs) rs1553643669
NM_000092.5(COL4A4):c.227_231del (p.Ile76fs) rs2061758031
NM_000092.5(COL4A4):c.2312del (p.Gly771fs)
NM_000092.5(COL4A4):c.236_252del (p.Leu79fs)
NM_000092.5(COL4A4):c.2377del (p.Ala793fs) rs1976320157
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val) rs200814061
NM_000092.5(COL4A4):c.2420del (p.Gly807fs) rs786205640
NM_000092.5(COL4A4):c.2435_2436del (p.Glu812fs) rs1448532668
NM_000092.5(COL4A4):c.2488del (p.Arg830fs)
NM_000092.5(COL4A4):c.2531_2537del (p.Tyr844fs) rs2150249648
NM_000092.5(COL4A4):c.2616del (p.Gly873fs)
NM_000092.5(COL4A4):c.2638del (p.Ala880fs) rs778043831
NM_000092.5(COL4A4):c.2656dup (p.Leu886fs)
NM_000092.5(COL4A4):c.2734G>A (p.Gly912Ser) rs1553640846
NM_000092.5(COL4A4):c.2734G>C (p.Gly912Arg) rs1553640846
NM_000092.5(COL4A4):c.2753del (p.Gly918fs) rs2150220718
NM_000092.5(COL4A4):c.2762del (p.Gly921fs) rs1974906528
NM_000092.5(COL4A4):c.2794A>T (p.Lys932Ter)
NM_000092.5(COL4A4):c.2826_2827insAC (p.Leu943fs) rs1559508134
NM_000092.5(COL4A4):c.282_283del (p.Asp96fs) rs1559677146
NM_000092.5(COL4A4):c.2833G>T (p.Gly945Ter) rs1303057809
NM_000092.5(COL4A4):c.2842G>T (p.Gly948Ter) rs2150219679
NM_000092.5(COL4A4):c.2870G>A (p.Gly957Glu)
NM_000092.5(COL4A4):c.2871dup (p.Pro958fs)
NM_000092.5(COL4A4):c.2906C>A (p.Ser969Ter) rs35138315
NM_000092.5(COL4A4):c.292_293dup (p.Pro99fs)
NM_000092.5(COL4A4):c.2980dup (p.Thr994fs)
NM_000092.5(COL4A4):c.301G>T (p.Gly101Ter)
NM_000092.5(COL4A4):c.3109_3110del (p.Leu1037fs) rs1559500363
NM_000092.5(COL4A4):c.3170G>T (p.Gly1057Val) rs2150172729
NM_000092.5(COL4A4):c.3271G>C (p.Gly1091Arg) rs1973129665
NM_000092.5(COL4A4):c.3289+1G>A
NM_000092.5(COL4A4):c.3289+1G>T rs1973128133
NM_000092.5(COL4A4):c.3310_3313dup (p.Gln1105fs) rs1971796422
NM_000092.5(COL4A4):c.3312del (p.Glu1104fs)
NM_000092.5(COL4A4):c.3313C>T (p.Gln1105Ter)
NM_000092.5(COL4A4):c.3319_3358del (p.Leu1107fs) rs2150103127
NM_000092.5(COL4A4):c.3321_3339dup (p.Arg1114fs)
NM_000092.5(COL4A4):c.3331C>T (p.Gln1111Ter)
NM_000092.5(COL4A4):c.3347C>G (p.Ser1116Ter) rs1971792460
NM_000092.5(COL4A4):c.3439del (p.Met1147fs) rs1559480432
NM_000092.5(COL4A4):c.3514G>T (p.Gly1172Ter) rs1364773011
NM_000092.5(COL4A4):c.3553C>T (p.Gln1185Ter)
NM_000092.5(COL4A4):c.3648del (p.Ser1217fs)
NM_000092.5(COL4A4):c.3680dup (p.Lys1229fs) rs2149980503
NM_000092.5(COL4A4):c.3687del (p.Gly1230fs)
NM_000092.5(COL4A4):c.3687dup (p.Gly1230fs)
NM_000092.5(COL4A4):c.3695del (p.Pro1232fs)
NM_000092.5(COL4A4):c.3704del (p.Pro1235fs) rs754706338
NM_000092.5(COL4A4):c.3704dup (p.Gly1236fs)
NM_000092.5(COL4A4):c.3713C>A (p.Ser1238Ter) rs121912859
NM_000092.5(COL4A4):c.3861_3862insTC (p.Arg1288fs) rs1559450594
NM_000092.5(COL4A4):c.3878_3881dup (p.Cys1294Ter) rs2149956892
NM_000092.5(COL4A4):c.3882_3883del (p.Cys1294fs) rs2149956832
NM_000092.5(COL4A4):c.3923del (p.Pro1308fs) rs762504207
NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter) rs1433065763
NM_000092.5(COL4A4):c.3955G>T (p.Gly1319Ter)
NM_000092.5(COL4A4):c.3961del (p.Asp1321fs)
NM_000092.5(COL4A4):c.3967C>T (p.Gln1323Ter) rs1489351299
NM_000092.5(COL4A4):c.3997C>T (p.Gln1333Ter) rs2149925286
NM_000092.5(COL4A4):c.4079del (p.Pro1360fs)
NM_000092.5(COL4A4):c.4082-1G>T rs1559438651
NM_000092.5(COL4A4):c.4093G>T (p.Glu1365Ter) rs2149854376
NM_000092.5(COL4A4):c.4097dup (p.Pro1368fs) rs2149854259
NM_000092.5(COL4A4):c.4150del (p.Ala1384fs)
NM_000092.5(COL4A4):c.4151dup (p.Pro1385fs)
NM_000092.5(COL4A4):c.4174G>T (p.Gly1392Ter)
NM_000092.5(COL4A4):c.4175del (p.Gly1392fs)
NM_000092.5(COL4A4):c.4187del (p.Leu1396fs) rs2149852923
NM_000092.5(COL4A4):c.4200dup (p.Gly1401fs) rs2149852637
NM_000092.5(COL4A4):c.4226del (p.Gly1409fs) rs1963907888
NM_000092.5(COL4A4):c.4304_4305del (p.Thr1435fs) rs2149763989
NM_000092.5(COL4A4):c.4334G>A (p.Gly1445Glu) rs1559402680
NM_000092.5(COL4A4):c.4386C>A (p.Tyr1462Ter)
NM_000092.5(COL4A4):c.4399del (p.Leu1467fs)
NM_000092.5(COL4A4):c.4444del (p.Leu1482fs) rs764752384
NM_000092.5(COL4A4):c.4456del (p.Arg1486fs) rs2149744042
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000092.5(COL4A4):c.4470del (p.Tyr1491fs) rs1963392922
NM_000092.5(COL4A4):c.4473_4474dup (p.Ser1492fs) rs2149743813
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr) rs1962651394
NM_000092.5(COL4A4):c.4544_4556del (p.Pro1515fs) rs2149722718
NM_000092.5(COL4A4):c.4599T>G (p.Tyr1533Ter) rs369922627
NM_000092.5(COL4A4):c.4603C>T (p.Gln1535Ter)
NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs) rs1962628992
NM_000092.5(COL4A4):c.4621_4624dup (p.Trp1542fs) rs1559396675
NM_000092.5(COL4A4):c.4645del (p.Leu1549fs)
NM_000092.5(COL4A4):c.4646dup (p.Met1551fs) rs2149721718
NM_000092.5(COL4A4):c.4683_4684del (p.Tyr1562fs)
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs) rs1962591629
NM_000092.5(COL4A4):c.4685_4686del (p.Tyr1562fs) rs1481294022
NM_000092.5(COL4A4):c.4717del (p.Ala1573fs) rs2149720724
NM_000092.5(COL4A4):c.4720C>T (p.Gln1574Ter) rs2149720690
NM_000092.5(COL4A4):c.4747C>T (p.Gln1583Ter)
NM_000092.5(COL4A4):c.4760del (p.Pro1587fs) rs1206142672
NM_000092.5(COL4A4):c.4760dup (p.Cys1588fs) rs1206142672
NM_000092.5(COL4A4):c.4768C>T (p.Gln1590Ter) rs1559395617
NM_000092.5(COL4A4):c.4776G>A (p.Trp1592Ter)
NM_000092.5(COL4A4):c.4849_4850del (p.Met1617fs) rs2149715284
NM_000092.5(COL4A4):c.4851_4854dup (p.Pro1619fs)
NM_000092.5(COL4A4):c.4900T>A (p.Cys1634Ser)
NM_000092.5(COL4A4):c.4901G>C (p.Cys1634Ser)
NM_000092.5(COL4A4):c.4923C>A (p.Cys1641Ter) rs121912862
NM_000092.5(COL4A4):c.4932_4933insT (p.Ala1645fs)
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter) rs1408907127
NM_000092.5(COL4A4):c.4962_4969dup (p.Ala1657delinsGlyTer) rs2149713829
NM_000092.5(COL4A4):c.4975_4976del (p.Leu1659fs)
NM_000092.5(COL4A4):c.5007del (p.Thr1669_Leu1670insTer) rs1308677161
NM_000092.5(COL4A4):c.5018del (p.Ser1673fs)
NM_000092.5(COL4A4):c.5024_5046del (p.Ala1675fs) rs2149713021
NM_000092.5(COL4A4):c.5031_5032dup (p.Gln1678fs) rs2149713200
NM_000092.5(COL4A4):c.511G>T (p.Glu171Ter)
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.595G>T (p.Gly199Ter) rs750345987
NM_000092.5(COL4A4):c.603G>A (p.Trp201Ter) rs2061041235
NM_000092.5(COL4A4):c.663del (p.Pro222fs)
NM_000092.5(COL4A4):c.666_667insA (p.Gly223fs)
NM_000092.5(COL4A4):c.694-2A>T
NM_000092.5(COL4A4):c.6G>A (p.Trp2Ter) rs1382380215
NM_000092.5(COL4A4):c.71+1G>A rs1559742015
NM_000092.5(COL4A4):c.71+1del rs2125387640
NM_000092.5(COL4A4):c.71G>A (p.Trp24Ter) rs1201925443
NM_000092.5(COL4A4):c.72G>A (p.Trp24Ter) rs2125348371
NM_000092.5(COL4A4):c.748C>T (p.Gln250Ter) rs2060674137
NM_000092.5(COL4A4):c.77_78del (p.Leu26fs)
NM_000092.5(COL4A4):c.794_804del (p.Asp264_Phe265insTer) rs2150805456
NM_000092.5(COL4A4):c.801_802del (p.Leu267_Tyr268insTer) rs2060671183
NM_000092.5(COL4A4):c.827G>C (p.Gly276Ala)
NM_000092.5(COL4A4):c.885del (p.Ile295fs) rs2150788209
NM_000092.5(COL4A4):c.914_930+29del rs1553683757
NM_000092.5(COL4A4):c.924del (p.Pro309fs)
NM_000092.5(COL4A4):c.93_94del (p.Ser32fs)
NM_000092.5(COL4A4):c.945dup (p.Tyr316fs)
NM_000092.5(COL4A4):c.999dup (p.Pro334fs) rs760803010

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