ClinVar Miner

List of variants in gene COL4A4 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 199
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.3973+300G>A rs6436643 0.98673
NM_000092.5(COL4A4):c.2861-311_2861-310insG rs3835891 0.79300
NM_000092.5(COL4A4):c.595-189T>C rs6436655 0.73562
NM_000092.5(COL4A4):c.595-111T>C rs6436654 0.71196
NM_000092.5(COL4A4):c.817-307A>C rs1317717 0.68442
NM_000092.5(COL4A4):c.3151-128A>C rs2251223 0.66862
NM_000092.5(COL4A4):c.2384-138C>T rs2141829 0.66461
NM_000092.5(COL4A4):c.2383+169T>C rs6436649 0.66442
NM_000092.5(COL4A4):c.2384-307A>G rs3769637 0.66442
NM_000092.5(COL4A4):c.2057-138G>A rs6436650 0.66143
NM_000092.5(COL4A4):c.816+135T>G rs7602059 0.65946
NM_000092.5(COL4A4):c.2717-156T>C rs4675142 0.65189
NM_000092.5(COL4A4):c.2384-230G>A rs2177597 0.64787
NM_000092.5(COL4A4):c.2545+178T>C rs4536647 0.64779
NM_000092.5(COL4A4):c.2545+214C>T rs4296417 0.64769
NM_000092.5(COL4A4):c.2545+140T>C rs4566357 0.64768
NM_000092.5(COL4A4):c.1804-158A>G rs7588113 0.64718
NM_000092.5(COL4A4):c.2545+51A>G rs7567789 0.64631
NM_000092.5(COL4A4):c.1029+72G>A rs16823202 0.64560
NM_000092.5(COL4A4):c.2056+248A>G rs12612535 0.64475
NM_000092.5(COL4A4):c.658-39T>C rs12475686 0.61721
NM_000092.5(COL4A4):c.2545+229C>T rs4296416 0.61429
NM_000092.5(COL4A4):c.2545+46A>T rs7567796 0.61276
NM_000092.5(COL4A4):c.4548A>G (p.Val1516=) rs2228555 0.57766
NM_000092.5(COL4A4):c.490-121T>G rs12465531 0.52500
NM_000092.5(COL4A4):c.2546-276dup rs5839191 0.51911
NM_000092.5(COL4A4):c.3214+159A>G rs2272202 0.51677
NM_000092.5(COL4A4):c.3215-66C>T rs2272200 0.51657
NM_000092.5(COL4A4):c.2861-142A>G rs3769643 0.51553
NM_000092.5(COL4A4):c.2969-165A>G rs2894626 0.51539
NM_000092.5(COL4A4):c.2861-195A>G rs3769642 0.51535
NM_000092.5(COL4A4):c.2861-112G>C rs3769644 0.51533
NM_000092.5(COL4A4):c.3011C>T (p.Pro1004Leu) rs1800517 0.51043
NM_000092.5(COL4A4):c.3215-286A>T rs2272201 0.51041
NM_000092.5(COL4A4):c.3150+92C>A rs2272204 0.51022
NM_000092.5(COL4A4):c.1444C>T (p.Pro482Ser) rs2229814 0.51006
NM_000092.5(COL4A4):c.4809+117T>C rs9288618 0.50153
NM_000092.5(COL4A4):c.4207T>C (p.Ser1403Pro) rs3752895 0.49558
NM_000092.5(COL4A4):c.4217-24C>T rs10188770 0.48798
NM_000092.5(COL4A4):c.2546-264T>A rs10206912 0.48787
NM_000092.5(COL4A4):c.4523-8T>C rs13419076 0.47936
NM_000092.5(COL4A4):c.4522+72G>A rs4423583 0.47909
NM_000092.5(COL4A4):c.4932C>T (p.Phe1644=) rs2228557 0.47874
NM_000092.5(COL4A4):c.4334-152A>T rs10194663 0.47730
NM_000092.5(COL4A4):c.4334-143C>T rs10182307 0.47649
NM_000092.5(COL4A4):c.4090+235T>A rs2177596 0.46877
NM_000092.5(COL4A4):c.3973+34T>C rs1917127 0.46756
NM_000092.5(COL4A4):c.4080G>A (p.Pro1360=) rs2228556 0.46753
NM_000092.5(COL4A4):c.4081+190A>G rs10199655 0.46752
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46716
NM_000092.5(COL4A4):c.3817+331G>A rs3769646 0.46660
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.3578-84T>C rs10179756 0.46595
NM_000092.5(COL4A4):c.3594G>A (p.Gly1198=) rs10203363 0.46565
NM_000092.5(COL4A4):c.2716+187C>T rs1320406 0.45752
NM_000092.5(COL4A4):c.694-72G>T rs55741079 0.44490
NM_000092.5(COL4A4):c.3214+300A>G rs10190621 0.43815
NM_000092.5(COL4A4):c.2717-177G>A rs55760660 0.43717
NM_000092.5(COL4A4):c.4091-36G>A rs3752896 0.42307
NM_000092.5(COL4A4):c.3974-292C>T rs2272198 0.42156
NM_000092.5(COL4A4):c.3817+229T>A rs10176882 0.42084
NM_000092.5(COL4A4):c.3506-237G>A rs2276593 0.41985
NM_000092.5(COL4A4):c.1459+258G>A rs6747048 0.40955
NM_000092.5(COL4A4):c.3505+343C>T rs11885634 0.39554
NM_000092.5(COL4A4):c.3214+223G>A rs10178202 0.33608
NM_000092.5(COL4A4):c.2384-154A>G rs2141828 0.30120
NM_000092.5(COL4A4):c.1624-150G>C rs10187611 0.23892
NM_000092.5(COL4A4):c.657+67A>G rs58363082 0.21126
NM_000092.5(COL4A4):c.657+62G>A rs59938187 0.20743
NM_000092.5(COL4A4):c.595-191C>T rs7578239 0.20545
NM_000092.5(COL4A4):c.595-305dup rs11408248 0.20427
NM_000092.5(COL4A4):c.594+281C>T rs4476340 0.20068
NM_000092.5(COL4A4):c.594+276G>T rs4306710 0.20045
NM_000092.5(COL4A4):c.594+168A>G rs4519512 0.19020
NM_000092.5(COL4A4):c.2164+78G>A rs11898094 0.17434
NM_000092.5(COL4A4):c.559-320C>G rs2272528 0.16680
NM_000092.5(COL4A4):c.1987+91T>C rs7597336 0.16109
NM_000092.5(COL4A4):c.657+48A>G rs73082223 0.15994
NM_000092.5(COL4A4):c.490-40T>C rs60924946 0.12641
NM_000092.5(COL4A4):c.735+104C>T rs10174459 0.10382
NM_000092.5(COL4A4):c.-2C>T rs2228558 0.10292
NM_000092.5(COL4A4):c.4081+120T>C rs7580776 0.10208
NM_000092.5(COL4A4):c.17T>C (p.Ile6Thr) rs16823264 0.10047
NM_000092.5(COL4A4):c.71+75G>A rs16823262 0.09759
NM_000092.5(COL4A4):c.71+163C>A rs16823259 0.09751
NM_000092.5(COL4A4):c.-101-191A>T rs17302501 0.09646
NM_000092.5(COL4A4):c.558+295dup rs57865017 0.08710
NM_000092.5(COL4A4):c.4333+210C>T rs35483183 0.08355
NM_000092.5(COL4A4):c.1030-149G>A rs2894632 0.08076
NM_000092.5(COL4A4):c.2861-220C>T rs60807146 0.07669
NM_000092.5(COL4A4):c.2969-50A>G rs2272205 0.07602
NM_000092.5(COL4A4):c.2384-5T>C rs3769641 0.07065
NM_000092.5(COL4A4):c.1369+297G>T rs56034237 0.05965
NM_000092.5(COL4A4):c.594+96C>T rs59888959 0.05512
NM_000092.5(COL4A4):c.594+63T>C rs7558996 0.04756
NM_000092.5(COL4A4):c.4333+238A>G rs56127522 0.04184
NM_000092.5(COL4A4):c.558+210A>G rs113424875 0.03762
NM_000092.5(COL4A4):c.373-332C>T rs79998223 0.03760
NM_000092.5(COL4A4):c.558+274G>T rs79064993 0.03750
NM_000092.5(COL4A4):c.489+147A>G rs56195833 0.03748
NM_000092.5(COL4A4):c.328-130dup rs141376350 0.03745
NM_000092.5(COL4A4):c.372+291A>G rs115128674 0.03745
NM_000092.5(COL4A4):c.3397+166C>A rs73995525 0.03439
NM_000092.5(COL4A4):c.1634G>C (p.Gly545Ala) rs1800516 0.03182
NM_000092.5(COL4A4):c.3506-121G>A rs77583082 0.02806
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421 0.02777
NM_000092.5(COL4A4):c.2165-15T>G rs60344965 0.02703
NM_000092.5(COL4A4):c.559-155C>T rs55709703 0.02698
NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515 0.02697
NM_000092.5(COL4A4):c.1369+189T>C rs73082213 0.02664
NM_000092.5(COL4A4):c.3151-310A>G rs73076283 0.02613
NM_000092.5(COL4A4):c.4041A>G (p.Leu1347=) rs16823077 0.02492
NM_000092.5(COL4A4):c.1624-188G>A rs111997909 0.02334
NM_000092.5(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949 0.02275
NM_000092.5(COL4A4):c.71+305A>G rs115550468 0.02244
NM_000092.5(COL4A4):c.817-120T>C rs7601500 0.01936
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096 0.01747
NM_000092.5(COL4A4):c.2383+269C>T rs7561057 0.01661
NM_000092.5(COL4A4):c.3486A>G (p.Pro1162=) rs2229815 0.01659
NM_000092.5(COL4A4):c.1205-122C>T rs7561575 0.01626
NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile) rs34236495 0.01622
NM_000092.5(COL4A4):c.4090+309G>A rs16823063 0.01614
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.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.558+83T>C rs76770753 0.00563
NM_000092.5(COL4A4):c.-101-4A>G rs147186690 0.00562
NM_000092.5(COL4A4):c.2907A>C (p.Ser969=) rs116354015 0.00506
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00479
NM_000092.5(COL4A4):c.3817+269G>A rs140394246 0.00473
NM_000092.5(COL4A4):c.736-69A>T rs75586446 0.00437
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.4081+56C>T rs186615965 0.00275
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437 0.00274
NM_000092.5(COL4A4):c.1987+48T>C rs150236630 0.00264
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.2717-15C>A rs143886681 0.00199
NM_000092.5(COL4A4):c.2717-16G>A rs146891868 0.00199
NM_000092.5(COL4A4):c.102A>G (p.Gln34=) rs3817617 0.00056
NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu) rs201578201 0.00054
NM_000092.5(COL4A4):c.2877C>T (p.Pro959=) rs79470996 0.00035
NM_000092.5(COL4A4):c.4195A>T (p.Met1399Leu) rs149117087 0.00019
NM_000092.5(COL4A4):c.4857T>C (p.Pro1619=) rs184776061 0.00017
NM_000092.5(COL4A4):c.558+73G>T rs185466258 0.00011
NM_000092.5(COL4A4):c.3705A>G (p.Pro1235=) rs752638078 0.00010
NM_000092.5(COL4A4):c.1202C>T (p.Ala401Val) rs199581317 0.00003
NM_000092.5(COL4A4):c.1988-21G>A rs377358595 0.00001
NM_000092.5(COL4A4):c.3151-31A>T rs572279679 0.00001
NM_000092.5(COL4A4):c.*244C>T rs56196639
NM_000092.5(COL4A4):c.-101-135A>G rs12694712
NM_000092.5(COL4A4):c.1205-118G>A rs7561347
NM_000092.5(COL4A4):c.1369+80T>A rs7587373
NM_000092.5(COL4A4):c.1459+258_1459+259del rs72091291
NM_000092.5(COL4A4):c.1459+260AT[11] rs527917534
NM_000092.5(COL4A4):c.1459+260AT[12] rs527917534
NM_000092.5(COL4A4):c.1987+184dup rs768453060
NM_000092.5(COL4A4):c.1987+213TTCTTT[2] rs139922960
NM_000092.5(COL4A4):c.1988-222G>A rs3765192
NM_000092.5(COL4A4):c.2056+292_2056+293del rs56292638
NM_000092.5(COL4A4):c.2056+293del rs56292638
NM_000092.5(COL4A4):c.2056+55_2056+56del rs35717623
NM_000092.5(COL4A4):c.2056+56del rs35717623
NM_000092.5(COL4A4):c.2165-13del rs140965334
NM_000092.5(COL4A4):c.2165-26dup rs200590191
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.5(COL4A4):c.2384-88_2384-87del rs61412063
NM_000092.5(COL4A4):c.2546-235del rs56950101
NM_000092.5(COL4A4):c.2860+158A>C rs56335810
NM_000092.5(COL4A4):c.3214+129G>C rs2272203
NM_000092.5(COL4A4):c.3505+310_3505+311del rs373573382
NM_000092.5(COL4A4):c.3505+343_3505+346del rs775370813
NM_000092.5(COL4A4):c.373-163T>C rs56153742
NM_000092.5(COL4A4):c.3817+238G>C rs115452453
NM_000092.5(COL4A4):c.4081+252AT[5] rs55816470
NM_000092.5(COL4A4):c.4216+198ATTTT[6] rs58851340
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000092.5(COL4A4):c.558+118C>A rs78106309
NM_000092.5(COL4A4):c.594+164G>T rs4306711
NM_000092.5(COL4A4):c.735+202T>A rs7600536
NM_000092.5(COL4A4):c.817-112dup rs111292507
NM_000092.5(COL4A4):c.870+29del rs10707643
NM_000092.5(COL4A4):c.871-60_871-38del rs11274738
NM_000092.5(COL4A4):c.930+175G>C rs1574391
NM_000092.5(COL4A4):c.930+240C>G rs1574390
NM_000092.5(COL4A4):c.976-36dup rs59443812

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