ClinVar Miner

List of variants in gene combination COL4A3, MFF-DT reported as likely pathogenic for autosomal recessive disease

Included ClinVar conditions (1167):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 206
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
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.4649T>G (p.Val1550Gly) rs200655479 0.00006
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.4819G>T (p.Glu1607Ter) rs764046610 0.00004
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) rs777401300 0.00003
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749 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.2954G>T (p.Gly985Val) rs121912827 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.1372G>A (p.Gly458Arg) rs757341933 0.00001
NM_000091.5(COL4A3):c.145-2_145-1del rs1491486533 0.00001
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg) rs1256505387 0.00001
NM_000091.5(COL4A3):c.1594G>T (p.Gly532Cys) rs779575469 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.1918G>A (p.Gly640Arg) rs200672668 0.00001
NM_000091.5(COL4A3):c.1927+2T>C rs1158937060 0.00001
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451 0.00001
NM_000091.5(COL4A3):c.2197G>T (p.Gly733Ter) rs2071839316 0.00001
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654 0.00001
NM_000091.5(COL4A3):c.2488_2488+2del rs1363058249 0.00001
NM_000091.5(COL4A3):c.2747-1G>C rs1196996393 0.00001
NM_000091.5(COL4A3):c.3210+1G>A rs1553762314 0.00001
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg) rs202147112 0.00001
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg) rs914878176 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.3751+1G>A rs781566652 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.4783G>A (p.Gly1595Arg) rs766208466 0.00001
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590 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
NM_000091.4:c.1900G>A;c.1927G>A
NM_000091.5(COL4A3):c.1015_1016insTGAAA (p.Gly339fs)
NM_000091.5(COL4A3):c.1042_1043delinsT (p.Asp348fs)
NM_000091.5(COL4A3):c.1066G>T (p.Glu356Ter)
NM_000091.5(COL4A3):c.1114+1G>A rs1286895614
NM_000091.5(COL4A3):c.1143_1150+1del rs1274459294
NM_000091.5(COL4A3):c.1150G>A (p.Gly384Arg)
NM_000091.5(COL4A3):c.1175G>A (p.Gly392Glu) rs1114167371
NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg) rs1574727988
NM_000091.5(COL4A3):c.1188G>A (p.Trp396Ter) rs1348174898
NM_000091.5(COL4A3):c.1213G>T (p.Glu405Ter) rs2070736908
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg) rs1559878862
NM_000091.5(COL4A3):c.1262del (p.Gly421fs) rs2125972772
NM_000091.5(COL4A3):c.1288G>A (p.Gly430Arg) rs1574728278
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser) rs1553755124
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.5(COL4A3):c.1361del (p.Pro454fs)
NM_000091.5(COL4A3):c.1370_1378del (p.Leu457_Ser459del) rs1553755767
NM_000091.5(COL4A3):c.1391G>A (p.Gly464Glu) rs2125981235
NM_000091.5(COL4A3):c.1407del (p.Gly470fs) rs766025194
NM_000091.5(COL4A3):c.1408G>T (p.Gly470Ter) rs2070901479
NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu) rs2125982395
NM_000091.5(COL4A3):c.1507A>T (p.Arg503Ter)
NM_000091.5(COL4A3):c.151A>T (p.Lys51Ter) rs2068937789
NM_000091.5(COL4A3):c.1531G>T (p.Gly511Ter) rs921768118
NM_000091.5(COL4A3):c.1572dup (p.Pro525fs)
NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser) rs779575469
NM_000091.5(COL4A3):c.1615G>T (p.Glu539Ter) rs2071189852
NM_000091.5(COL4A3):c.1645C>T (p.Gln549Ter)
NM_000091.5(COL4A3):c.1662_1663del (p.Asp555fs)
NM_000091.5(COL4A3):c.1682_1685del (p.Gln561fs)
NM_000091.5(COL4A3):c.1729A>T (p.Lys577Ter)
NM_000091.5(COL4A3):c.1747A>T (p.Lys583Ter) rs920504687
NM_000091.5(COL4A3):c.1758+1G>A rs1553757096
NM_000091.5(COL4A3):c.1767_1773del (p.Ser589fs)
NM_000091.5(COL4A3):c.1806_1814del (p.603SPG[1]) rs1444785718
NM_000091.5(COL4A3):c.1855G>T (p.Gly619Ter) rs773515249
NM_000091.5(COL4A3):c.1865G>A (p.Gly622Glu) rs2125996486
NM_000091.5(COL4A3):c.1879del (p.Gln627fs)
NM_000091.5(COL4A3):c.2021G>A (p.Gly674Asp) rs1574767962
NM_000091.5(COL4A3):c.2048G>A (p.Gly683Glu) rs2106132144
NM_000091.5(COL4A3):c.2065G>A (p.Gly689Arg) rs1553758919
NM_000091.5(COL4A3):c.2076_2077del (p.Glu693fs)
NM_000091.5(COL4A3):c.2126-1G>C rs2071831565
NM_000091.5(COL4A3):c.2153G>C (p.Gly718Ala) rs267599232
NM_000091.5(COL4A3):c.2170G>T (p.Gly724Ter)
NM_000091.5(COL4A3):c.2192T>A (p.Leu731Ter)
NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg) rs375040636
NM_000091.5(COL4A3):c.2223+1G>A rs1553759476
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1]) rs1306992119
NM_000091.5(COL4A3):c.2328_2336del (p.772LPG[2]) rs1553759665
NM_000091.5(COL4A3):c.234+1G>A rs1240838887
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.5(COL4A3):c.2444dup (p.Ala816fs)
NM_000091.5(COL4A3):c.2456_2457insACTGTCTCTTA (p.Pro820fs)
NM_000091.5(COL4A3):c.2480G>A (p.Gly827Glu)
NM_000091.5(COL4A3):c.2489-1G>A rs1574782406
NM_000091.5(COL4A3):c.2558G>C (p.Gly853Ala)
NM_000091.5(COL4A3):c.2590C>T (p.Gln864Ter) rs2072046147
NM_000091.5(COL4A3):c.2591_2592insT (p.Gln864fs)
NM_000091.5(COL4A3):c.2602G>T (p.Gly868Ter)
NM_000091.5(COL4A3):c.2617A>T (p.Arg873Ter) rs2072047738
NM_000091.5(COL4A3):c.2621del (p.Gly874fs) rs759043857
NM_000091.5(COL4A3):c.2673_2676delinsATTTTCGA (p.Gly892fs)
NM_000091.5(COL4A3):c.2764G>C (p.Gly922Arg)
NM_000091.5(COL4A3):c.279+1G>A rs202001097
NM_000091.5(COL4A3):c.280G>T (p.Gly94Ter) rs2069240492
NM_000091.5(COL4A3):c.2830_2831delinsG (p.Pro944fs)
NM_000091.5(COL4A3):c.2834C>A (p.Ser945Ter) rs2072184526
NM_000091.5(COL4A3):c.2838_2839del (p.Glu946fs) rs1553760802
NM_000091.5(COL4A3):c.2864G>T (p.Gly955Val)
NM_000091.5(COL4A3):c.2870del (p.Pro957fs)
NM_000091.5(COL4A3):c.2950A>T (p.Lys984Ter)
NM_000091.5(COL4A3):c.2953G>T (p.Gly985Ter) rs2072530756
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.5(COL4A3):c.304dup (p.Ser102fs)
NM_000091.5(COL4A3):c.305del (p.Ser102fs) rs2069242131
NM_000091.5(COL4A3):c.3068_3069del (p.Pro1023fs) rs1064796094
NM_000091.5(COL4A3):c.3070+1G>A rs2106206598
NM_000091.5(COL4A3):c.309_317del (p.Ser104_Gly106del) rs1553750572
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.3176C>A (p.Ser1059Ter) rs2072651666
NM_000091.5(COL4A3):c.3206del (p.Pro1069fs)
NM_000091.5(COL4A3):c.3211-1G>C rs1553762936
NM_000091.5(COL4A3):c.3212G>C (p.Gly1071Ala)
NM_000091.5(COL4A3):c.325-1G>A rs762518741
NM_000091.5(COL4A3):c.3257G>A (p.Gly1086Glu) rs1574813350
NM_000091.5(COL4A3):c.3292G>T (p.Gly1098Ter)
NM_000091.5(COL4A3):c.3327_3330del (p.Gly1110fs)
NM_000091.5(COL4A3):c.3337+1del rs1350835100
NM_000091.5(COL4A3):c.3362T>A (p.Leu1121Ter) rs2072936269
NM_000091.5(COL4A3):c.3370A>T (p.Lys1124Ter) rs2072936529
NM_000091.5(COL4A3):c.3373G>T (p.Gly1125Ter) rs2072936636
NM_000091.5(COL4A3):c.3427G>A (p.Gly1143Arg)
NM_000091.5(COL4A3):c.3454G>C (p.Gly1152Arg) rs749383170
NM_000091.5(COL4A3):c.3463G>A (p.Gly1155Ser) rs774583962
NM_000091.5(COL4A3):c.3561_3562del (p.Gln1188fs)
NM_000091.5(COL4A3):c.3565G>T (p.Gly1189Ter) rs2072983130
NM_000091.5(COL4A3):c.3575G>A (p.Gly1192Glu) rs1574823172
NM_000091.5(COL4A3):c.3647del (p.Gly1216fs)
NM_000091.5(COL4A3):c.3682G>C (p.Gly1228Arg) rs1559913871
NM_000091.5(COL4A3):c.3749del (p.Pro1250fs)
NM_000091.5(COL4A3):c.3769G>A (p.Gly1257Arg) rs2106250807
NM_000091.5(COL4A3):c.388-1G>T rs1553750900
NM_000091.5(COL4A3):c.388-2A>G rs2069361375
NM_000091.5(COL4A3):c.3883-2A>G rs1553765265
NM_000091.5(COL4A3):c.3915del (p.Arg1306fs)
NM_000091.5(COL4A3):c.3952A>T (p.Lys1318Ter) rs2073363435
NM_000091.5(COL4A3):c.3964G>A (p.Gly1322Ser) rs759739044
NM_000091.5(COL4A3):c.3968_3970delinsTT (p.Asn1323fs)
NM_000091.5(COL4A3):c.4004del (p.Pro1335fs)
NM_000091.5(COL4A3):c.4036G>T (p.Gly1346Ter) rs2073400756
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser) rs2073401281
NM_000091.5(COL4A3):c.4054A>T (p.Lys1352Ter) rs2073401408
NM_000091.5(COL4A3):c.4100del (p.Gly1367fs)
NM_000091.5(COL4A3):c.4207G>T (p.Gly1403Ter)
NM_000091.5(COL4A3):c.4219G>T (p.Glu1407Ter) rs2073446479
NM_000091.5(COL4A3):c.4240A>T (p.Lys1414Ter)
NM_000091.5(COL4A3):c.4270G>T (p.Gly1424Ter) rs2073567181
NM_000091.5(COL4A3):c.4298del (p.Gly1433fs)
NM_000091.5(COL4A3):c.4307del (p.Gly1436fs)
NM_000091.5(COL4A3):c.4337_4338del (p.Phe1446fs) rs776244020
NM_000091.5(COL4A3):c.4429C>T (p.Gln1477Ter)
NM_000091.5(COL4A3):c.4515C>A (p.Cys1505Ter) rs2073628823
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter) rs759873621
NM_000091.5(COL4A3):c.4559C>A (p.Ser1520Ter)
NM_000091.5(COL4A3):c.4566G>A (p.Trp1522Ter) rs2073630720
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000091.5(COL4A3):c.4615A>T (p.Arg1539Ter)
NM_000091.5(COL4A3):c.4625_4626del (p.Glu1542fs)
NM_000091.5(COL4A3):c.4634_4635del (p.Ile1545fs)
NM_000091.5(COL4A3):c.4640+1G>A rs1553766404
NM_000091.5(COL4A3):c.468+1G>A rs1553751122
NM_000091.5(COL4A3):c.468+1G>T rs1553751122
NM_000091.5(COL4A3):c.468+1del rs1553751120
NM_000091.5(COL4A3):c.4710T>A (p.Cys1570Ter)
NM_000091.5(COL4A3):c.4732T>C (p.Trp1578Arg) rs2073646176
NM_000091.5(COL4A3):c.4756-1G>A rs1553766735
NM_000091.5(COL4A3):c.4802del (p.Pro1601fs) rs867868993
NM_000091.5(COL4A3):c.4872C>G (p.Tyr1624Ter) rs1351781261
NM_000091.5(COL4A3):c.547G>T (p.Gly183Cys) rs2069716520
NM_000091.5(COL4A3):c.570del (p.Pro191fs)
NM_000091.5(COL4A3):c.610-1G>A
NM_000091.5(COL4A3):c.615del (p.Pro206fs)
NM_000091.5(COL4A3):c.643A>T (p.Lys215Ter)
NM_000091.5(COL4A3):c.645+2T>C rs1553752199
NM_000091.5(COL4A3):c.656G>A (p.Gly219Asp)
NM_000091.5(COL4A3):c.656G>T (p.Gly219Val) rs2069900248
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs) rs1469479748
NM_000091.5(COL4A3):c.680G>A (p.Gly227Glu) rs1574698507
NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser) rs2125932297
NM_000091.5(COL4A3):c.700_701del (p.Leu234fs)
NM_000091.5(COL4A3):c.713dup (p.Pro240fs) rs988439345
NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu) rs1574699806
NM_000091.5(COL4A3):c.737_738insATGTGTATAAGAGACA (p.Val246_Thr247insCysValTer)
NM_000091.5(COL4A3):c.778G>T (p.Glu260Ter) rs2125934541
NM_000091.5(COL4A3):c.803dup (p.Glu269fs)
NM_000091.5(COL4A3):c.829-2A>C rs1553753119
NM_000091.5(COL4A3):c.833dup (p.Pro279fs) rs1363680371
NM_000091.5(COL4A3):c.872G>A (p.Gly291Glu) rs1425230568
NM_000091.5(COL4A3):c.890G>A (p.Gly297Glu) rs1422638161
NM_000091.5(COL4A3):c.894del (p.Lys298fs) rs2070145822
NM_000091.5(COL4A3):c.94_95del (p.Val32fs)
NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp) rs1559872489
NM_000091.5(COL4A3):c.991C>T (p.Gln331Ter) rs768527987

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