ClinVar Miner

List of variants in gene combination COL4A3, MFF-DT reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 161
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.4929-145T>G rs4455148 0.99995
NM_000091.5(COL4A3):c.4462+443A>G rs4436947 0.99958
NM_000091.5(COL4A3):c.442-88A>G rs4321358 0.97899
NM_000091.5(COL4A3):c.2375-66C>T rs6436671 0.92995
NM_000091.5(COL4A3):c.3882+310A>G rs10804333 0.92919
NM_000091.5(COL4A3):c.2223+100G>T rs6729152 0.92901
NM_000091.5(COL4A3):c.3211-319T>C rs4261710 0.92149
NM_000091.5(COL4A3):c.2881+46A>G rs6436672 0.86693
NM_000091.5(COL4A3):c.4756-181C>T rs10432551 0.80892
NM_000091.5(COL4A3):c.3883-210G>A rs4271760 0.80741
NM_000091.5(COL4A3):c.2980+131C>T rs7593281 0.80544
NM_000091.5(COL4A3):c.2980+173A>G rs7566682 0.80503
NM_000091.5(COL4A3):c.469-269G>A rs6436668 0.77336
NM_000091.5(COL4A3):c.145-99C>T rs7579991 0.77329
NM_000091.5(COL4A3):c.441+197A>G rs10192026 0.77323
NM_000091.5(COL4A3):c.485A>G (p.Glu162Gly) rs6436669 0.77323
NM_000091.5(COL4A3):c.645+231C>G rs4675160 0.77318
NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro) rs10178458 0.77314
NM_000091.5(COL4A3):c.765+49T>G rs12621551 0.77016
NM_000091.5(COL4A3):c.324+246C>T rs6750355 0.75240
NM_000091.5(COL4A3):c.279+267A>G rs4675159 0.75177
NM_000091.5(COL4A3):c.441+146G>T rs10168566 0.75094
NM_000091.5(COL4A3):c.280-41_280-40insG rs113428834 0.75023
NM_000091.5(COL4A3):c.3751+263C>T rs7606813 0.74336
NM_000091.5(COL4A3):c.2980+192C>A rs7593299 0.74136
NM_000091.5(COL4A3):c.1195C>T (p.Leu399=) rs10205042 0.72668
NM_000091.5(COL4A3):c.324+73C>T rs6750210 0.72318
NM_000091.5(COL4A3):c.1576-306A>G rs7606754 0.68900
NM_000091.5(COL4A3):c.766-232A>G rs12694724 0.54992
NM_000091.5(COL4A3):c.1114+109A>G rs4332918 0.53228
NM_000091.5(COL4A3):c.889-311T>G rs6728122 0.40768
NM_000091.5(COL4A3):c.1721C>T (p.Pro574Leu) rs28381984 0.38447
NM_000091.5(COL4A3):c.1029+246T>C rs12621020 0.34251
NM_000091.5(COL4A3):c.144+181G>T rs11901256 0.32906
NM_000091.5(COL4A3):c.144+182G>A rs11901257 0.32812
NM_000091.5(COL4A3):c.828+59C>G rs7559693 0.32638
NM_000091.5(COL4A3):c.3566-110T>G rs62279162 0.31258
NM_000091.5(COL4A3):c.3955+273C>A rs62279163 0.31197
NM_000091.5(COL4A3):c.144+12C>A rs1882435 0.29027
NM_000091.5(COL4A3):c.4154-69C>T rs11680670 0.27813
NM_000091.5(COL4A3):c.4928+198C>T rs55761800 0.20280
NM_000091.5(COL4A3):c.765+154G>A rs13409219 0.19360
NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr) rs55703767 0.15364
NM_000091.5(COL4A3):c.3883-194G>A rs10451555 0.14097
NM_000091.5(COL4A3):c.1576-60G>A rs73993878 0.13711
NM_000091.5(COL4A3):c.1759-308T>A rs78908239 0.13585
NM_000091.5(COL4A3):c.1505-287T>A rs35064967 0.13062
NM_000091.5(COL4A3):c.2489-91_2489-90insT rs1275114937 0.12722
NM_000091.5(COL4A3):c.828+20A>G rs13386404 0.12468
NM_000091.5(COL4A3):c.3419-39C>T rs4675163 0.12458
NM_000091.5(COL4A3):c.3751+195A>G rs74266862 0.12068
NM_000091.5(COL4A3):c.546+186C>A rs62277853 0.11571
NM_000091.5(COL4A3):c.3211-246G>A rs55920965 0.11465
NM_000091.5(COL4A3):c.889-39T>C rs28470865 0.11238
NM_000091.5(COL4A3):c.4755+193G>A rs79118782 0.11043
NM_000091.5(COL4A3):c.4153+239del rs139517145 0.11000
NM_000091.5(COL4A3):c.987+295A>C rs10205097 0.10901
NM_000091.5(COL4A3):c.1504+100T>C rs7582825 0.10648
NM_000091.5(COL4A3):c.1409-228G>A rs10197580 0.10482
NM_000091.5(COL4A3):c.987+35T>G rs10933172 0.10155
NM_000091.5(COL4A3):c.468+139C>T rs12612699 0.10086
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877 0.08050
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=) rs34019152 0.07474
NM_000091.5(COL4A3):c.1759-122A>C rs35793546 0.07311
NM_000091.5(COL4A3):c.888+30G>A rs35467545 0.07260
NM_000091.5(COL4A3):c.1223G>A (p.Arg408His) rs34505188 0.06909
NM_000091.5(COL4A3):c.1576-15T>G rs56243460 0.06412
NM_000091.5(COL4A3):c.2223+221T>C rs60539573 0.06399
NM_000091.5(COL4A3):c.2021-54T>C rs55643512 0.06366
NM_000091.5(COL4A3):c.*286C>T rs6436677 0.06341
NM_000091.5(COL4A3):c.280-40T>G rs11386485 0.06240
NM_000091.5(COL4A3):c.687+103T>A rs55997063 0.06185
NM_000091.5(COL4A3):c.2882-73C>T rs7592926 0.06158
NM_000091.5(COL4A3):c.4463-119T>G rs73993954 0.06120
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801 0.06070
NM_000091.5(COL4A3):c.3419-14T>G rs116133488 0.06066
NM_000091.5(COL4A3):c.4755+315G>A rs138795208 0.04750
NM_000091.5(COL4A3):c.2489-220G>A rs9917238 0.04745
NM_000091.5(COL4A3):c.1150+237G>A rs151332517 0.04347
NM_000091.5(COL4A3):c.1115-20T>C rs76304838 0.03709
NM_000091.5(COL4A3):c.829-212A>G rs76979607 0.03708
NM_000091.5(COL4A3):c.3211-158G>T rs56231260 0.03684
NM_000091.5(COL4A3):c.4756-194C>T rs111345755 0.03247
NM_000091.5(COL4A3):c.766-13G>A rs77431913 0.02920
NM_000091.5(COL4A3):c.3211-109A>C rs59699546 0.02873
NM_000091.5(COL4A3):c.3752-248G>C rs56058318 0.02869
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys) rs80109666 0.02845
NM_000091.5(COL4A3):c.988-88A>G rs55921350 0.02719
NM_000091.5(COL4A3):c.547-9A>C rs55667591 0.02682
NM_000091.5(COL4A3):c.469-143A>T rs112387221 0.02679
NM_000091.5(COL4A3):c.469-53G>T rs111564047 0.02679
NM_000091.5(COL4A3):c.441+247A>G rs76572401 0.02677
NM_000091.5(COL4A3):c.325-27C>T rs112712399 0.02674
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414 0.02579
NM_000091.5(COL4A3):c.2489-299G>T rs141423662 0.02550
NM_000091.5(COL4A3):c.2981-198A>C rs59951397 0.02417
NM_000091.5(COL4A3):c.325-246T>C rs74839186 0.02143
NM_000091.5(COL4A3):c.442-181C>T rs111715526 0.02139
NM_000091.5(COL4A3):c.442-102A>G rs80354712 0.02138
NM_000091.5(COL4A3):c.399G>A (p.Gly133=) rs75683214 0.02133
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=) rs75519005 0.01995
NM_000091.5(COL4A3):c.1315+64G>A rs79202137 0.01979
NM_000091.5(COL4A3):c.766-75G>C rs75058990 0.01978
NM_000091.5(COL4A3):c.4252+156G>A rs75703762 0.01967
NM_000091.5(COL4A3):c.645+304G>A rs75890569 0.01671
NM_000091.5(COL4A3):c.2501A>G (p.Lys834Arg) rs56226424 0.01064
NM_000091.5(COL4A3):c.1505-11T>C rs115757151 0.00959
NM_000091.5(COL4A3):c.88-4C>T rs148393022 0.00744
NM_000091.5(COL4A3):c.889-122T>C rs112006850 0.00652
NM_000091.5(COL4A3):c.1398T>C (p.Asp466=) rs145833114 0.00584
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815 0.00573
NM_000091.5(COL4A3):c.4380T>C (p.Cys1460=) rs114430490 0.00507
NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr) rs115324397 0.00485
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283 0.00412
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074 0.00385
NM_000091.5(COL4A3):c.4707A>T (p.Pro1569=) rs113401495 0.00364
NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=) rs183218622 0.00344
NM_000091.5(COL4A3):c.3566-10T>C rs114719458 0.00331
NM_000091.5(COL4A3):c.828+50T>C rs113079601 0.00286
NM_000091.5(COL4A3):c.4252+43G>A rs115173647 0.00237
NM_000091.5(COL4A3):c.3031C>T (p.Arg1011Cys) rs73996408 0.00233
NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=) rs200858199 0.00210
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val) rs199755408 0.00159
NM_000091.5(COL4A3):c.222G>T (p.Pro74=) rs187950806 0.00096
NM_000091.5(COL4A3):c.3627G>A (p.Met1209Ile) rs200562865 0.00076
NM_000091.5(COL4A3):c.987+148A>C rs191544169 0.00026
NM_000091.5(COL4A3):c.1353C>T (p.His451=) rs189364374 0.00025
NM_000091.5(COL4A3):c.280-129G>A rs190001013 0.00020
NM_000091.5(COL4A3):c.688-8G>T rs748843785 0.00013
NM_000091.5(COL4A3):c.1115-211C>G rs77280016
NM_000091.5(COL4A3):c.1150+279G>A rs55918117
NM_000091.5(COL4A3):c.1150+302C>T rs55711929
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg) rs13424243
NM_000091.5(COL4A3):c.1315+205C>T rs4396710
NM_000091.5(COL4A3):c.1316-227del rs66686669
NM_000091.5(COL4A3):c.144+165del rs35499269
NM_000091.5(COL4A3):c.144+165dup rs35499269
NM_000091.5(COL4A3):c.1504+108C>A rs10933174
NM_000091.5(COL4A3):c.2021-109del rs59353048
NM_000091.5(COL4A3):c.2021-110_2021-109del rs59353048
NM_000091.5(COL4A3):c.2488+111G>A rs6733386
NM_000091.5(COL4A3):c.2489-90_2489-89insT rs1559896717
NM_000091.5(COL4A3):c.280-41_280-40insGT rs200702001
NM_000091.5(COL4A3):c.2882-182del rs200614219
NM_000091.5(COL4A3):c.2882-182dup rs200614219
NM_000091.5(COL4A3):c.2882-183_2882-182dup rs200614219
NM_000091.5(COL4A3):c.324+321dup rs11400067
NM_000091.5(COL4A3):c.3338-143T>C rs6436675
NM_000091.5(COL4A3):c.3419-4del rs35803812
NM_000091.5(COL4A3):c.3419-5_3419-4del rs35803812
NM_000091.5(COL4A3):c.3752-324dup rs145565120
NM_000091.5(COL4A3):c.3883-85C>T rs55659411
NM_000091.5(COL4A3):c.4253-51G>A rs73993953
NM_000091.5(COL4A3):c.441+150G>T rs10168567
NM_000091.5(COL4A3):c.4755+145_4755+148del rs34134749
NM_000091.5(COL4A3):c.4756-67del rs11343703
NM_000091.5(COL4A3):c.766-229dup rs375929929
NM_000091.5(COL4A3):c.828+95_828+96dup rs11412904
NM_000091.5(COL4A3):c.828+96del rs11412904
NM_000091.5(COL4A3):c.828+96dup rs11412904
NM_000091.5(COL4A3):c.888+220C>G rs59354201

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