ClinVar Miner

List of variants in gene COL4A4 reported by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 175
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.2545+178T>C rs4536647 0.64779
NM_000092.5(COL4A4):c.2545+140T>C rs4566357 0.64768
NM_000092.5(COL4A4):c.4548A>G (p.Val1516=) rs2228555 0.57766
NM_000092.5(COL4A4):c.3011C>T (p.Pro1004Leu) rs1800517 0.51043
NM_000092.5(COL4A4):c.1444C>T (p.Pro482Ser) rs2229814 0.51006
NM_000092.5(COL4A4):c.4207T>C (p.Ser1403Pro) rs3752895 0.49558
NM_000092.5(COL4A4):c.4523-8T>C rs13419076 0.47936
NM_000092.5(COL4A4):c.4932C>T (p.Phe1644=) rs2228557 0.47874
NM_000092.5(COL4A4):c.4080G>A (p.Pro1360=) rs2228556 0.46753
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46716
NM_000092.5(COL4A4):c.3817+9G>C rs13423714 0.46646
NM_000092.5(COL4A4):c.3684G>A (p.Lys1228=) rs2229812 0.46642
NM_000092.5(COL4A4):c.3594G>A (p.Gly1198=) rs10203363 0.46565
NM_000092.5(COL4A4):c.-2C>T rs2228558 0.10292
NM_000092.5(COL4A4):c.17T>C (p.Ile6Thr) rs16823264 0.10047
NM_000092.5(COL4A4):c.2384-5T>C rs3769641 0.07065
NM_000092.5(COL4A4):c.1634G>C (p.Gly545Ala) rs1800516 0.03182
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421 0.02777
NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515 0.02697
NM_000092.5(COL4A4):c.4041A>G (p.Leu1347=) rs16823077 0.02492
NM_000092.5(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949 0.02275
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096 0.01747
NM_000092.5(COL4A4):c.3486A>G (p.Pro1162=) rs2229815 0.01659
NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile) rs34236495 0.01622
NM_000092.5(COL4A4):c.2439A>T (p.Gly813=) rs34835657 0.01612
NM_000092.5(COL4A4):c.1323T>C (p.Pro441=) rs35830639 0.01576
NM_000092.5(COL4A4):c.4656G>A (p.Met1552Ile) rs77104306 0.01346
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659 0.01279
NM_000092.5(COL4A4):c.1821G>A (p.Ala607=) rs114684841 0.01262
NM_000092.5(COL4A4):c.3233C>T (p.Ala1078Val) rs79143859 0.01259
NM_000092.5(COL4A4):c.2791G>A (p.Ala931Thr) rs75875272 0.01243
NM_000092.5(COL4A4):c.2796G>A (p.Lys932=) rs34591179 0.01236
NM_000092.5(COL4A4):c.2545+143T>A rs55915150 0.01197
NM_000092.5(COL4A4):c.2717-5A>T rs1800519 0.01182
NM_000092.5(COL4A4):c.198A>G (p.Pro66=) rs147947155 0.00681
NM_000092.5(COL4A4):c.666G>A (p.Pro222=) rs111945121 0.00676
NM_000092.5(COL4A4):c.3963T>C (p.Asp1321=) rs116124529 0.00639
NM_000092.5(COL4A4):c.3232G>A (p.Ala1078Thr) rs77277077 0.00631
NM_000092.5(COL4A4):c.3871C>G (p.Pro1291Ala) rs34728338 0.00619
NM_000092.5(COL4A4):c.4091-305C>T rs145689259 0.00487
NM_000092.5(COL4A4):c.4082-8C>T rs139571413 0.00420
NM_000092.5(COL4A4):c.50A>G (p.Lys17Arg) rs114969026 0.00341
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437 0.00274
NM_000092.5(COL4A4):c.5016A>G (p.Glu1672=) rs34761049 0.00264
NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=) rs75398993 0.00245
NM_000092.5(COL4A4):c.1819G>A (p.Ala607Thr) rs75539253 0.00109
NM_000092.5(COL4A4):c.1776T>C (p.Ala592=) rs188655353 0.00101
NM_000092.5(COL4A4):c.71+10C>T rs374140251 0.00077
NM_000092.5(COL4A4):c.4185G>A (p.Gly1395=) rs55978207 0.00057
NM_000092.5(COL4A4):c.1812T>C (p.His604=) rs371381056 0.00056
NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu) rs201578201 0.00054
NM_000092.5(COL4A4):c.3654A>G (p.Pro1218=) rs369708146 0.00050
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=) rs374510402 0.00048
NM_000092.5(COL4A4):c.2383+7G>A rs182406906 0.00039
NM_000092.5(COL4A4):c.2877C>T (p.Pro959=) rs79470996 0.00035
NM_000092.5(COL4A4):c.3108T>C (p.Gly1036=) rs201962241 0.00030
NM_000092.5(COL4A4):c.541G>T (p.Ala181Ser) rs200707549 0.00030
NM_000092.5(COL4A4):c.1435G>C (p.Gly479Arg) rs202210475 0.00026
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) rs76636743 0.00021
NM_000092.5(COL4A4):c.193-9C>G rs190570269 0.00020
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln) rs373741172 0.00020
NM_000092.5(COL4A4):c.4195A>T (p.Met1399Leu) rs149117087 0.00019
NM_000092.5(COL4A4):c.3885T>C (p.Gly1295=) rs199839937 0.00018
NM_000092.5(COL4A4):c.4857T>C (p.Pro1619=) rs184776061 0.00017
NM_000092.5(COL4A4):c.1055C>T (p.Pro352Leu) rs371717486 0.00016
NM_000092.5(COL4A4):c.2430C>G (p.Gly810=) rs769363556 0.00015
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr) rs374119389 0.00014
NM_000092.5(COL4A4):c.2161C>T (p.Pro721Ser) rs200759521 0.00012
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) rs35138315 0.00011
NM_000092.5(COL4A4):c.338G>A (p.Gly113Asp) rs766085522 0.00011
NM_000092.5(COL4A4):c.3531C>T (p.Asn1177=) rs201699649 0.00011
NM_000092.5(COL4A4):c.771C>T (p.Thr257=) rs372387985 0.00011
NM_000092.5(COL4A4):c.3705A>G (p.Pro1235=) rs752638078 0.00010
NM_000092.5(COL4A4):c.1664C>T (p.Ala555Val) rs371066387 0.00009
NM_000092.5(COL4A4):c.2171G>A (p.Arg724His) rs200146486 0.00009
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu) rs200860702 0.00009
NM_000092.5(COL4A4):c.2751C>T (p.Pro917=) rs544472944 0.00008
NM_000092.5(COL4A4):c.3037C>T (p.His1013Tyr) rs751663801 0.00008
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys) rs200973262 0.00008
NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys) rs555143841 0.00006
NM_000092.5(COL4A4):c.1394C>T (p.Pro465Leu) rs200411532 0.00006
NM_000092.5(COL4A4):c.2079C>T (p.Pro693=) rs200010601 0.00006
NM_000092.5(COL4A4):c.2170C>T (p.Arg724Cys) rs754398956 0.00006
NM_000092.5(COL4A4):c.778G>A (p.Val260Ile) rs775358063 0.00006
NM_000092.5(COL4A4):c.8C>T (p.Ser3Phe) rs201403066 0.00006
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala) rs548019779 0.00005
NM_000092.5(COL4A4):c.1630C>T (p.His544Tyr) rs745815071 0.00005
NM_000092.5(COL4A4):c.2570C>T (p.Pro857Leu) rs533602128 0.00005
NM_000092.5(COL4A4):c.2929C>G (p.Pro977Ala) rs769300622 0.00005
NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met) rs201615111 0.00005
NM_000092.5(COL4A4):c.1665G>A (p.Ala555=) rs137880920 0.00004
NM_000092.5(COL4A4):c.1668G>T (p.Lys556Asn) rs764279454 0.00004
NM_000092.5(COL4A4):c.1782A>G (p.Glu594=) rs370489388 0.00004
NM_000092.5(COL4A4):c.2717-3C>T rs191634780 0.00004
NM_000092.5(COL4A4):c.2986G>A (p.Gly996Arg) rs370474706 0.00004
NM_000092.5(COL4A4):c.3644C>T (p.Pro1215Leu) rs189847470 0.00004
NM_000092.5(COL4A4):c.4640C>T (p.Ala1547Val) rs780916516 0.00004
NM_000092.5(COL4A4):c.4782C>T (p.Ser1594=) rs200799557 0.00004
NM_000092.5(COL4A4):c.4975T>C (p.Leu1659=) rs368044748 0.00004
NM_000092.5(COL4A4):c.1202C>T (p.Ala401Val) rs199581317 0.00003
NM_000092.5(COL4A4):c.1471C>T (p.Leu491Phe) rs777805216 0.00003
NM_000092.5(COL4A4):c.1488T>C (p.Pro496=) rs1405969453 0.00003
NM_000092.5(COL4A4):c.3450T>A (p.Pro1150=) rs751859861 0.00003
NM_000092.5(COL4A4):c.4693C>T (p.Arg1565Cys) rs372161135 0.00003
NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549 0.00003
NM_000092.5(COL4A4):c.1893A>G (p.Gly631=) rs370886041 0.00002
NM_000092.5(COL4A4):c.1990G>A (p.Asp664Asn) rs201181725 0.00002
NM_000092.5(COL4A4):c.3112A>G (p.Arg1038Gly) rs770930167 0.00002
NM_000092.5(COL4A4):c.3355A>G (p.Arg1119Gly) rs778458961 0.00002
NM_000092.5(COL4A4):c.4694G>A (p.Arg1565His) rs200109045 0.00002
NM_000092.5(COL4A4):c.4809+9C>T rs765888822 0.00002
NM_000092.5(COL4A4):c.861A>G (p.Pro287=) rs747613100 0.00002
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=) rs778832152 0.00001
NM_000092.5(COL4A4):c.1395C>T (p.Pro465=) rs771419084 0.00001
NM_000092.5(COL4A4):c.1585C>T (p.Pro529Ser) rs2059732638 0.00001
NM_000092.5(COL4A4):c.192G>A (p.Arg64=) rs748152418 0.00001
NM_000092.5(COL4A4):c.1988-3C>T rs752688851 0.00001
NM_000092.5(COL4A4):c.2045A>G (p.Asp682Gly) rs142093416 0.00001
NM_000092.5(COL4A4):c.2092G>A (p.Gly698Arg) rs1241404192 0.00001
NM_000092.5(COL4A4):c.2123G>T (p.Arg708Ile) rs759828394 0.00001
NM_000092.5(COL4A4):c.2294G>T (p.Gly765Val) rs747881404 0.00001
NM_000092.5(COL4A4):c.2383+3A>G rs1351961379 0.00001
NM_000092.5(COL4A4):c.2511G>A (p.Gly837=) rs767522216 0.00001
NM_000092.5(COL4A4):c.2617G>A (p.Gly873Arg) rs929684384 0.00001
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu) rs769138971 0.00001
NM_000092.5(COL4A4):c.3351T>C (p.Pro1117=) rs747784952 0.00001
NM_000092.5(COL4A4):c.3434G>A (p.Gly1145Glu) rs1260916310 0.00001
NM_000092.5(COL4A4):c.3495G>A (p.Pro1165=) rs774011820 0.00001
NM_000092.5(COL4A4):c.3771G>A (p.Pro1257=) rs1384523881 0.00001
NM_000092.5(COL4A4):c.4091G>T (p.Gly1364Val) rs770364064 0.00001
NM_000092.5(COL4A4):c.410G>A (p.Gly137Asp) rs377511303 0.00001
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861 0.00001
NM_000092.5(COL4A4):c.4413C>G (p.His1471Gln) rs1478610555 0.00001
NM_000092.5(COL4A4):c.4779G>A (p.Arg1593=) rs751561029 0.00001
NM_000092.5(COL4A4):c.4829A>G (p.Gln1610Arg) rs369714481 0.00001
NM_000092.5(COL4A4):c.489+1G>A rs1040287646 0.00001
NM_000092.5(COL4A4):c.507G>C (p.Lys169Asn) rs545808060 0.00001
NM_000092.5(COL4A4):c.559-2A>G rs766243664 0.00001
NM_000092.5(COL4A4):c.595-7T>A rs765195717 0.00001
NM_000092.5(COL4A4):c.734C>T (p.Pro245Leu) rs770011392 0.00001
NM_000092.5(COL4A4):c.871-6T>C rs749753913 0.00001
NM_000092.5(COL4A4):c.975+1G>A rs1553683192 0.00001
NM_000092.5(COL4A4):c.1030-2A>C rs1553681714
NM_000092.5(COL4A4):c.1369+1G>A rs1553676230
NM_000092.5(COL4A4):c.1464T>G (p.Asn488Lys) rs2059739807
NM_000092.5(COL4A4):c.1719T>C (p.Pro573=) rs533957132
NM_000092.5(COL4A4):c.2057G>A (p.Gly686Asp) rs1156323870
NM_000092.5(COL4A4):c.2164+8A>T rs745682054
NM_000092.5(COL4A4):c.2219dup (p.Val741fs) rs141127013
NM_000092.5(COL4A4):c.232C>T (p.Pro78Ser) rs762682812
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.5(COL4A4):c.2611C>T (p.Leu871Phe) rs910142548
NM_000092.5(COL4A4):c.2638del (p.Ala880fs) rs778043831
NM_000092.5(COL4A4):c.2922T>C (p.Pro974=) rs762735176
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser) rs531161419
NM_000092.5(COL4A4):c.3196G>C (p.Gly1066Arg) rs1333536476
NM_000092.5(COL4A4):c.3488G>T (p.Gly1163Val) rs1559480099
NM_000092.5(COL4A4):c.3696A>G (p.Pro1232=) rs1968564790
NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter) rs1433065763
NM_000092.5(COL4A4):c.3974-12dup rs200823182
NM_000092.5(COL4A4):c.4095A>G (p.Glu1365=) rs1966135663
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000092.5(COL4A4):c.4760C>T (p.Pro1587Leu) rs190148408
NM_000092.5(COL4A4):c.4782C>G (p.Ser1594Arg) rs200799557
NM_000092.5(COL4A4):c.4809+7dup rs759784585
NM_000092.5(COL4A4):c.592C>T (p.Pro198Ser) rs1039244540
NM_000092.5(COL4A4):c.680G>A (p.Arg227His) rs368248078
NM_000092.5(COL4A4):c.736-4del rs750699545
NM_000092.5(COL4A4):c.766C>T (p.Pro256Ser) rs773445256
NM_000092.5(COL4A4):c.805A>G (p.Lys269Glu) rs2150805428
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000092.5(COL4A4):c.846A>C (p.Gly282=) rs553087192
NM_000092.5(COL4A4):c.847C>A (p.Leu283Met) rs2060622187
NM_000092.5(COL4A4):c.870G>A (p.Lys290=) rs2060620860

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