ClinVar Miner

List of variants studied for Alport syndrome by Genome-Nilou Lab

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 110
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HGVS dbSNP gnomAD frequency
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.2223+100G>T rs6729152 0.92901
NM_000091.5(COL4A3):c.2881+46A>G rs6436672 0.86693
NM_000091.5(COL4A3):c.145-99C>T rs7579991 0.77329
NM_000091.5(COL4A3):c.485A>G (p.Glu162Gly) rs6436669 0.77323
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.441+146G>T rs10168566 0.75094
NM_000091.5(COL4A3):c.1195C>T (p.Leu399=) rs10205042 0.72668
NM_000091.5(COL4A3):c.324+73C>T rs6750210 0.72318
NM_000092.5(COL4A4):c.595-111T>C rs6436654 0.71196
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.658-39T>C rs12475686 0.61721
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.3214+159A>G rs2272202 0.51677
NM_000092.5(COL4A4):c.3215-66C>T rs2272200 0.51657
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.4217-24C>T rs10188770 0.48798
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.3973+34T>C rs1917127 0.46756
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.3578-84T>C rs10179756 0.46595
NM_000092.5(COL4A4):c.3594G>A (p.Gly1198=) rs10203363 0.46565
NM_000092.5(COL4A4):c.694-72G>T rs55741079 0.44490
NM_000092.5(COL4A4):c.4091-36G>A rs3752896 0.42307
NM_000091.5(COL4A3):c.1721C>T (p.Pro574Leu) rs28381984 0.38447
NM_000091.5(COL4A3):c.828+59C>G rs7559693 0.32638
NM_000091.5(COL4A3):c.144+12C>A rs1882435 0.29027
NM_000091.5(COL4A3):c.4154-69C>T rs11680670 0.27813
NM_033380.3(COL4A5):c.1033-72C>T rs2272944 0.23733
NM_000092.5(COL4A4):c.657+67A>G rs58363082 0.21126
NM_000092.5(COL4A4):c.657+62G>A rs59938187 0.20743
NM_033380.3(COL4A5):c.609+21T>C rs6622333 0.18370
NM_033380.3(COL4A5):c.1587+136A>G rs4308887 0.18242
NM_000092.5(COL4A4):c.2164+78G>A rs11898094 0.17434
NM_000092.5(COL4A4):c.1987+91T>C rs7597336 0.16109
NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr) rs55703767 0.15364
NM_000091.5(COL4A3):c.1576-60G>A rs73993878 0.13711
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.889-39T>C rs28470865 0.11238
NM_000091.5(COL4A3):c.987+35T>G rs10933172 0.10155
NM_000091.5(COL4A3):c.468+139C>T rs12612699 0.10086
NM_033380.3(COL4A5):c.2768-11A>G rs1006269 0.09324
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877 0.08050
NM_000092.5(COL4A4):c.2969-50A>G rs2272205 0.07602
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=) rs34019152 0.07474
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.2021-54T>C rs55643512 0.06366
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.3807C>A (p.Asp1269Glu) rs57611801 0.06070
NM_000091.5(COL4A3):c.933+14T>C rs55928538 0.02412
NM_000091.5(COL4A3):c.988-80T>C rs56326869 0.01910
NM_033380.3(COL4A5):c.276+69T>C rs149638471 0.01263
NM_000091.5(COL4A3):c.3882+132T>C rs11677093 0.01240
NM_033380.3(COL4A5):c.1992G>T (p.Lys664Asn) rs34077552 0.00745
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074 0.00385
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735 0.00119
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000092.5(COL4A4):c.2877C>T (p.Pro959=) rs79470996 0.00035
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00017
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys) rs150305490 0.00008
NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr) rs201031986 0.00006
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly) rs192411379 0.00006
NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=) rs181952966 0.00005
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys) rs747356302 0.00004
NM_033380.3(COL4A5):c.3647C>T (p.Pro1216Leu) rs1456370485 0.00003
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913 0.00002
NM_000091.5(COL4A3):c.4753A>G (p.Met1585Val) rs541108316 0.00001
NM_000091.5(COL4A3):c.4756-68A>G rs1042360366 0.00001
NM_033390.2(ZC3H12C):c.355C>G (p.Gln119Glu) rs775161683 0.00001
NM_000091.5(COL4A3):c.1175G>A (p.Gly392Glu) rs1114167371
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg) rs13424243
NM_000091.5(COL4A3):c.1408+35C>T rs771642290
NM_000091.5(COL4A3):c.2636del (p.Pro879fs) rs2106164640
NM_000091.5(COL4A3):c.3323G>T (p.Ser1108Ile) rs1574813579
NM_000091.5(COL4A3):c.3419-4del rs35803812
NM_000091.5(COL4A3):c.3591A>G (p.Pro1197=) rs753945261
NM_000091.5(COL4A3):c.3755C>G (p.Ala1252Gly) rs761179248
NM_000091.5(COL4A3):c.4253-51G>A rs73993953
NM_000091.5(COL4A3):c.4315G>A (p.Ala1439Thr) rs2106284049
NM_000091.5(COL4A3):c.4386G>A (p.Glu1462=) rs2073573869
NM_000091.5(COL4A3):c.441+150G>T rs10168567
NM_000091.5(COL4A3):c.4721G>A (p.Trp1574Ter) rs2106289552
NM_000091.5(COL4A3):c.4756-69A>G rs2106294242
NM_000091.5(COL4A3):c.4756-74A>C rs2106294221
NM_000091.5(COL4A3):c.828+84T>G rs2125935070
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.5(COL4A4):c.2594del (p.Pro865fs) rs2150235627
NM_000092.5(COL4A4):c.3214+129G>C rs2272203
NM_000092.5(COL4A4):c.3738C>T (p.Ala1246=) rs2149978554
NM_033380.3(COL4A5):c.137A>G (p.Glu46Gly) rs2147657717
NM_033380.3(COL4A5):c.3940del (p.Gln1314fs) rs2147975180
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys) rs144282156
NM_033380.3(COL4A5):c.439-24A>T rs2147754904
NM_033380.3(COL4A5):c.446del (p.Pro149fs) rs104886054
NM_033380.3(COL4A5):c.81+56C>A rs2147448578

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