ClinVar Miner

List of variants in gene combination COL4A3, MFF-DT reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 227
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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.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620 0.00005
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239 0.00005
NM_000091.5(COL4A3):c.1992del (p.Gly665fs) rs751677704 0.00005
NM_000091.5(COL4A3):c.3643C>T (p.Arg1215Ter) rs368434069 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.4441C>T (p.Arg1481Ter) rs121912824 0.00003
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749 0.00003
NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779 0.00003
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933 0.00002
NM_000091.5(COL4A3):c.2535del (p.Leu846fs) rs993103826 0.00002
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010 0.00002
NM_000091.5(COL4A3):c.4803del (p.Gly1602fs) rs760846085 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000091.5(COL4A3):c.1051C>T (p.Gln351Ter) rs1218470259 0.00001
NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg) rs757341933 0.00001
NM_000091.5(COL4A3):c.1584del (p.Gly529fs) rs1380904813 0.00001
NM_000091.5(COL4A3):c.1594G>T (p.Gly532Cys) rs779575469 0.00001
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668 0.00001
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654 0.00001
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181 0.00001
NM_000091.5(COL4A3):c.272G>A (p.Gly91Asp) rs1414411811 0.00001
NM_000091.5(COL4A3):c.2800G>A (p.Gly934Arg) rs199956740 0.00001
NM_000091.5(COL4A3):c.3109C>T (p.Arg1037Ter) rs766900945 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.3472G>C (p.Gly1158Arg) rs914878176 0.00001
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745 0.00001
NM_000091.5(COL4A3):c.4001G>A (p.Gly1334Glu) rs375290088 0.00001
NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter) rs1189607438 0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) rs775373641 0.00001
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter) rs769863513 0.00001
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590 0.00001
NM_000091.5(COL4A3):c.4982G>A (p.Arg1661His) rs374158562 0.00001
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg) rs1014839148 0.00001
NM_000091.5(COL4A3):c.949_950del (p.Arg317fs) rs756133651 0.00001
NC_000002.12:g.227253562dup
NC_000002.12:g.227256027del rs2125940514
NC_000002.12:g.227280441del rs2106151385
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys) rs1559873550
NM_000091.5(COL4A3):c.1033G>T (p.Glu345Ter) rs760561462
NM_000091.5(COL4A3):c.1037_1038del (p.Tyr346fs)
NM_000091.5(COL4A3):c.1054G>T (p.Glu352Ter) rs937387158
NM_000091.5(COL4A3):c.1077_1081dup (p.Pro361fs) rs2125956496
NM_000091.5(COL4A3):c.1109del (p.Pro370fs)
NM_000091.5(COL4A3):c.1111C>T (p.Gln371Ter) rs2125956727
NM_000091.5(COL4A3):c.1113del (p.Gly372fs) rs2070436374
NM_000091.5(COL4A3):c.1131del (p.Gly378fs) rs2125961866
NM_000091.5(COL4A3):c.1132G>A (p.Gly378Arg) rs2125961933
NM_000091.5(COL4A3):c.1150+5G>A
NM_000091.5(COL4A3):c.1156_1171del (p.Ser386fs) rs2125972268
NM_000091.5(COL4A3):c.1180_1199del (p.Pro394fs) rs2125972390
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu) rs1131691738
NM_000091.5(COL4A3):c.1206_1210del (p.Ser402fs)
NM_000091.5(COL4A3):c.1213G>T (p.Glu405Ter) rs2070736908
NM_000091.5(COL4A3):c.1213_1214del (p.Glu405fs)
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg) rs1559878862
NM_000091.5(COL4A3):c.1229G>A (p.Gly410Glu) rs1350342816
NM_000091.5(COL4A3):c.1262del (p.Gly421fs) rs2125972772
NM_000091.5(COL4A3):c.1274C>A (p.Ser425Ter)
NM_000091.5(COL4A3):c.1286del (p.Pro429fs) rs2125972883
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser) rs1553755124
NM_000091.5(COL4A3):c.133A>T (p.Lys45Ter)
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.5(COL4A3):c.1391G>T (p.Gly464Val)
NM_000091.5(COL4A3):c.1407del (p.Gly470fs) rs766025194
NM_000091.5(COL4A3):c.1408+1G>A rs1185847791
NM_000091.5(COL4A3):c.1408+1G>C
NM_000091.5(COL4A3):c.1443T>A (p.Tyr481Ter) rs2070938396
NM_000091.5(COL4A3):c.1504+1G>A rs1559882199
NM_000091.5(COL4A3):c.1591C>T (p.Gln531Ter) rs2125991063
NM_000091.5(COL4A3):c.1615G>T (p.Glu539Ter) rs2071189852
NM_000091.5(COL4A3):c.1671dup (p.Leu558fs) rs2125991253
NM_000091.5(COL4A3):c.1687G>A (p.Gly563Arg) rs1553757060
NM_000091.5(COL4A3):c.1750G>T (p.Gly584Cys) rs2125991456
NM_000091.5(COL4A3):c.1778_1793del (p.Gly593fs)
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg) rs1574753929
NM_000091.5(COL4A3):c.1845dup (p.Pro616fs)
NM_000091.5(COL4A3):c.184C>T (p.Gln62Ter) rs2125891603
NM_000091.5(COL4A3):c.1861dup (p.Gln621fs) rs2125996462
NM_000091.5(COL4A3):c.1885dup (p.Thr629fs) rs2125996551
NM_000091.5(COL4A3):c.1886del (p.Thr629fs)
NM_000091.5(COL4A3):c.1891G>A (p.Gly631Arg) rs2125996582
NM_000091.5(COL4A3):c.1892G>T (p.Gly631Val) rs1315862965
NM_000091.5(COL4A3):c.1900G>T (p.Gly634Ter) rs1060499696
NM_000091.5(COL4A3):c.1908dup (p.Gly637fs) rs2125996634
NM_000091.5(COL4A3):c.1933del (p.Arg645fs) rs1559890140
NM_000091.5(COL4A3):c.1937dup (p.Glu647fs) rs758444182
NM_000091.5(COL4A3):c.1956_1978del (p.Pro653fs) rs2071566709
NM_000091.5(COL4A3):c.1985G>A (p.Gly662Glu)
NM_000091.5(COL4A3):c.1991del (p.Pro664fs)
NM_000091.5(COL4A3):c.2003del (p.Gly668fs) rs755235783
NM_000091.5(COL4A3):c.2031_2038dup (p.Gly680fs) rs1553758893
NM_000091.5(COL4A3):c.2086del (p.Ile696fs)
NM_000091.5(COL4A3):c.2126G>A (p.Gly709Glu) rs1553759430
NM_000091.5(COL4A3):c.2156C>G (p.Ser719Ter) rs1164505506
NM_000091.5(COL4A3):c.2162del (p.Gly721fs) rs1399954090
NM_000091.5(COL4A3):c.2176dup (p.Met726fs) rs1559893935
NM_000091.5(COL4A3):c.2189G>A (p.Gly730Glu) rs2071838155
NM_000091.5(COL4A3):c.226_229dup (p.Pro77fs)
NM_000091.5(COL4A3):c.2313_2330del (p.772LPG[1]) rs2071889322
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1]) rs1306992119
NM_000091.5(COL4A3):c.2330G>A (p.Gly777Asp) rs2106151987
NM_000091.5(COL4A3):c.2336del (p.Pro779fs) rs2106152005
NM_000091.5(COL4A3):c.2353G>T (p.Glu785Ter) rs755792441
NM_000091.5(COL4A3):c.2374G>T (p.Gly792Ter) rs2071892705
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.5(COL4A3):c.2507G>A (p.Gly836Glu) rs2072040353
NM_000091.5(COL4A3):c.253G>T (p.Gly85Ter) rs2125904394
NM_000091.5(COL4A3):c.2546C>G (p.Ser849Ter) rs2072043249
NM_000091.5(COL4A3):c.257del (p.Leu86fs)
NM_000091.5(COL4A3):c.2621_2622delinsT (p.Gly874fs) rs1553760257
NM_000091.5(COL4A3):c.2628del (p.Gly877fs)
NM_000091.5(COL4A3):c.2638G>T (p.Gly880Ter) rs2106164697
NM_000091.5(COL4A3):c.2717dup (p.Gly907fs) rs2106171752
NM_000091.5(COL4A3):c.2745_2746+7del
NM_000091.5(COL4A3):c.2746+1del rs2106172051
NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs) rs766306957
NM_000091.5(COL4A3):c.2782_2797del (p.Gly928fs)
NM_000091.5(COL4A3):c.2838_2839del (p.Glu946fs) rs1553760802
NM_000091.5(COL4A3):c.2881+1G>A rs1559899827
NM_000091.5(COL4A3):c.2881+1G>T rs1559899827
NM_000091.5(COL4A3):c.2908G>T (p.Gly970Ter)
NM_000091.5(COL4A3):c.2916_2917del (p.Gly973fs) rs1559904445
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.5(COL4A3):c.3026del (p.Gly1009fs) rs755109848
NM_000091.5(COL4A3):c.305del (p.Ser102fs) rs2069242131
NM_000091.5(COL4A3):c.3068_3069del (p.Pro1023fs) rs1064796094
NM_000091.5(COL4A3):c.3088G>T (p.Gly1030Ter)
NM_000091.5(COL4A3):c.3119_3120del (p.Arg1040fs) rs1161799599
NM_000091.5(COL4A3):c.3134G>T (p.Gly1045Val) rs2072649241
NM_000091.5(COL4A3):c.3148C>T (p.Gln1050Ter) rs1553762279
NM_000091.5(COL4A3):c.3152del (p.Gly1051fs)
NM_000091.5(COL4A3):c.3176C>G (p.Ser1059Ter) rs2072651666
NM_000091.5(COL4A3):c.3180del (p.Gly1061fs)
NM_000091.5(COL4A3):c.3210+2T>C rs2106211133
NM_000091.5(COL4A3):c.3211-1G>C rs1553762936
NM_000091.5(COL4A3):c.3211-2A>C rs2106226183
NM_000091.5(COL4A3):c.3238G>A (p.Gly1080Arg) rs1267839034
NM_000091.5(COL4A3):c.3244_3247del (p.Lys1082fs) rs1057516204
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3337+1del rs1350835100
NM_000091.5(COL4A3):c.334_337del (p.Gly112fs)
NM_000091.5(COL4A3):c.3357_3364dup (p.Gly1122fs) rs2072936004
NM_000091.5(COL4A3):c.345del (p.Pro116fs) rs749390823
NM_000091.5(COL4A3):c.3464G>A (p.Gly1155Asp) rs2106235905
NM_000091.5(COL4A3):c.3514del (p.Thr1172fs) rs2106236126
NM_000091.5(COL4A3):c.3517+1del rs2106236191
NM_000091.5(COL4A3):c.351C>A (p.Tyr117Ter) rs750308686
NM_000091.5(COL4A3):c.3542del (p.Pro1181fs) rs1453992981
NM_000091.5(COL4A3):c.3566-2A>G rs1055753755
NM_000091.5(COL4A3):c.3566G>A (p.Gly1189Glu) rs2106246658
NM_000091.5(COL4A3):c.3579_3585del (p.Asp1193fs) rs2106246712
NM_000091.5(COL4A3):c.3608del (p.Pro1203fs)
NM_000091.5(COL4A3):c.3619G>A (p.Gly1207Arg) rs1167411352
NM_000091.5(COL4A3):c.3619G>C (p.Gly1207Arg) rs1167411352
NM_000091.5(COL4A3):c.3620G>A (p.Gly1207Glu) rs1553764136
NM_000091.5(COL4A3):c.3671del (p.Pro1224fs) rs764376138
NM_000091.5(COL4A3):c.369del (p.Gly124fs)
NM_000091.5(COL4A3):c.370G>T (p.Gly124Ter)
NM_000091.5(COL4A3):c.3737C>G (p.Ser1246Ter)
NM_000091.5(COL4A3):c.3751G>A (p.Gly1251Ser) rs2106247623
NM_000091.5(COL4A3):c.3752-2A>C
NM_000091.5(COL4A3):c.3767del (p.Pro1256fs) rs2106250767
NM_000091.5(COL4A3):c.3768del (p.Gly1257fs)
NM_000091.5(COL4A3):c.376del (p.Ser126fs) rs2125910105
NM_000091.5(COL4A3):c.3797_3798insGT (p.Ile1266fs)
NM_000091.5(COL4A3):c.3801_3802del (p.Gly1268fs)
NM_000091.5(COL4A3):c.3813del (p.Ser1272fs) rs1559914770
NM_000091.5(COL4A3):c.3866del (p.Gly1289fs)
NM_000091.5(COL4A3):c.3882+5G>A rs1553764454
NM_000091.5(COL4A3):c.3955+1G>C rs2106267620
NM_000091.5(COL4A3):c.3955+2T>G
NM_000091.5(COL4A3):c.3991G>T (p.Gly1331Ter) rs2073395126
NM_000091.5(COL4A3):c.4130dup (p.Pro1378fs) rs2106271092
NM_000091.5(COL4A3):c.4144_4151del (p.Gly1382fs)
NM_000091.5(COL4A3):c.4217del (p.Gly1406fs) rs2106274574
NM_000091.5(COL4A3):c.4265C>G (p.Ser1422Ter) rs2106283830
NM_000091.5(COL4A3):c.4337_4338del (p.Phe1446fs) rs776244020
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs) rs748026887
NM_000091.5(COL4A3):c.4410del (p.Ser1472fs) rs1559922416
NM_000091.5(COL4A3):c.4420_4424del (p.Leu1474fs) rs1445615417
NM_000091.5(COL4A3):c.4425dup (p.Val1476fs) rs2106284607
NM_000091.5(COL4A3):c.4450G>T (p.Gly1484Ter)
NM_000091.5(COL4A3):c.4474A>T (p.Ser1492Cys) rs1057519377
NM_000091.5(COL4A3):c.4477dup (p.Cys1493fs)
NM_000091.5(COL4A3):c.4483C>T (p.Gln1495Ter)
NM_000091.5(COL4A3):c.448del (p.Ala150fs)
NM_000091.5(COL4A3):c.4531_4534del (p.Cys1511fs)
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter) rs759873621
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000091.5(COL4A3):c.4589del (p.Pro1530fs)
NM_000091.5(COL4A3):c.4644C>A (p.Cys1548Ter) rs1574842143
NM_000091.5(COL4A3):c.4650_4653del (p.Cys1551fs)
NM_000091.5(COL4A3):c.4664C>T (p.Ala1555Val) rs369575989
NM_000091.5(COL4A3):c.466A>T (p.Lys156Ter)
NM_000091.5(COL4A3):c.467del (p.Lys156fs) rs2125914087
NM_000091.5(COL4A3):c.4701del (p.Pro1568fs) rs2106289464
NM_000091.5(COL4A3):c.4722G>A (p.Trp1574Ter)
NM_000091.5(COL4A3):c.4738G>T (p.Gly1580Ter)
NM_000091.5(COL4A3):c.4802del (p.Pro1601fs) rs867868993
NM_000091.5(COL4A3):c.4825del (p.Arg1609fs) rs2073715263
NM_000091.5(COL4A3):c.4887del (p.Ser1628_Tyr1629insTer)
NM_000091.5(COL4A3):c.4918A>T (p.Arg1640Ter)
NM_000091.5(COL4A3):c.4928+1G>T
NM_000091.5(COL4A3):c.4938del (p.Pro1647fs)
NM_000091.5(COL4A3):c.520G>T (p.Gly174Trp) rs1014839148
NM_000091.5(COL4A3):c.522dup (p.Leu175fs) rs761358728
NM_000091.5(COL4A3):c.524T>A (p.Leu175Ter)
NM_000091.5(COL4A3):c.560_563del (p.Pro187fs) rs749348004
NM_000091.5(COL4A3):c.637G>A (p.Gly213Arg) rs1553752192
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs) rs1469479748
NM_000091.5(COL4A3):c.713del (p.Pro238fs) rs988439345
NM_000091.5(COL4A3):c.778dup (p.Glu260fs) rs2125934511
NM_000091.5(COL4A3):c.825dup (p.Ser276fs)
NM_000091.5(COL4A3):c.833dup (p.Pro279fs) rs1363680371
NM_000091.5(COL4A3):c.864del (p.Ala289fs) rs2125936439
NM_000091.5(COL4A3):c.888+1G>A rs2125936534
NM_000091.5(COL4A3):c.894del (p.Lys298fs) rs2070145822
NM_000091.5(COL4A3):c.894dup (p.Pro299fs) rs2070145822
NM_000091.5(COL4A3):c.898G>T (p.Gly300Ter) rs772708743
NM_000091.5(COL4A3):c.92_95dup (p.Lys34fs) rs1385106410
NM_000091.5(COL4A3):c.933+1G>A
NM_000091.5(COL4A3):c.967_968dup (p.Met323fs) rs2125941952
NM_000091.5(COL4A3):c.998G>A (p.Gly333Glu)

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