ClinVar Miner

List of variants reported as likely benign for autosomal recessive Alport syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.145-99C>T rs7579991 0.77329
NM_000091.5(COL4A3):c.889-39T>C rs28470865 0.11238
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=) rs34019152 0.07474
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_000092.5(COL4A4):c.2008G>A (p.Val670Ile) rs34236495 0.01622
NM_000091.5(COL4A3):c.3882+132T>C rs11677093 0.01240
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815 0.00573
NM_000092.5(COL4A4):c.3818-15C>T rs184593123 0.00152
NM_000092.5(COL4A4):c.1819G>A (p.Ala607Thr) rs75539253 0.00109
NM_000091.5(COL4A3):c.274G>C (p.Val92Leu) rs200873401 0.00070
NM_000091.5(COL4A3):c.888+17G>A rs199840268 0.00068
NM_000092.5(COL4A4):c.1812T>C (p.His604=) rs371381056 0.00056
NM_000091.5(COL4A3):c.21C>A (p.Pro7=) rs530353117 0.00041
NM_000091.5(COL4A3):c.2489-18T>A rs79573480 0.00035
NM_000092.5(COL4A4):c.2877C>T (p.Pro959=) rs79470996 0.00035
NM_000092.5(COL4A4):c.3666T>C (p.Pro1222=) rs372838090 0.00029
NM_000091.5(COL4A3):c.204T>C (p.Pro68=) rs200170381 0.00026
NM_000092.5(COL4A4):c.930+11T>C rs531340239 0.00020
NM_000092.5(COL4A4):c.3885T>C (p.Gly1295=) rs199839937 0.00018
NM_000092.5(COL4A4):c.2073A>G (p.Pro691=) rs368774059 0.00017
NM_000091.5(COL4A3):c.2391T>C (p.Pro797=) rs187921460 0.00016
NM_000092.5(COL4A4):c.1987+16T>A rs532962885 0.00016
NM_000092.5(COL4A4):c.2717-17T>C rs183421243 0.00015
NM_000091.5(COL4A3):c.2125+14T>A rs563131123 0.00014
NM_000091.5(COL4A3):c.3132A>C (p.Pro1044=) rs554940562 0.00014
NM_000091.5(COL4A3):c.442-15T>C rs770450269 0.00013
NM_000091.5(COL4A3):c.468+8A>G rs374368957 0.00013
NM_000092.5(COL4A4):c.1428C>T (p.Pro476=) rs185847845 0.00013
NM_000092.5(COL4A4):c.2346A>G (p.Lys782=) rs199838682 0.00013
NM_000091.5(COL4A3):c.4407T>C (p.Ser1469=) rs373720128 0.00012
NM_000092.5(COL4A4):c.4590G>A (p.Val1530=) rs141793628 0.00012
NM_000091.5(COL4A3):c.4449C>T (p.His1483=) rs140672401 0.00011
NM_000092.5(COL4A4):c.2546-6T>C rs199710625 0.00011
NM_000092.5(COL4A4):c.3531C>T (p.Asn1177=) rs201699649 0.00011
NM_000092.5(COL4A4):c.595-18G>A rs372991861 0.00010
NM_000091.5(COL4A3):c.4755+18A>G rs553695911 0.00009
NM_000091.5(COL4A3):c.4314T>C (p.Pro1438=) rs750401163 0.00007
NM_000092.5(COL4A4):c.2322T>A (p.Gly774=) rs370383308 0.00007
NM_000092.5(COL4A4):c.1962C>T (p.Gly654=) rs376448360 0.00006
NM_000092.5(COL4A4):c.543C>T (p.Ala181=) rs777358824 0.00006
NM_000091.5(COL4A3):c.2637G>A (p.Pro879=) rs755312698 0.00005
NM_000091.5(COL4A3):c.325-20G>A rs760968700 0.00005
NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=) rs181952966 0.00005
NM_000092.5(COL4A4):c.4525C>T (p.Leu1509=) rs200849651 0.00005
NM_000092.5(COL4A4):c.4701G>A (p.Ala1567=) rs375189390 0.00005
NM_000091.5(COL4A3):c.1115-12A>G rs761088575 0.00004
NM_000091.5(COL4A3):c.1917C>T (p.Pro639=) rs369320502 0.00004
NM_000091.5(COL4A3):c.3211-13G>C rs200555661 0.00004
NM_000091.5(COL4A3):c.934-6C>A rs369438839 0.00004
NM_000091.5(COL4A3):c.988-6C>T rs762463604 0.00004
NM_000092.5(COL4A4):c.1665G>A (p.Ala555=) rs137880920 0.00004
NM_000092.5(COL4A4):c.1782A>G (p.Glu594=) rs370489388 0.00004
NM_000092.5(COL4A4):c.2145G>A (p.Ala715=) rs773270107 0.00004
NM_000092.5(COL4A4):c.2613C>T (p.Leu871=) rs780182097 0.00004
NM_000092.5(COL4A4):c.2925G>A (p.Gly975=) rs559743197 0.00004
NM_000092.5(COL4A4):c.4975T>C (p.Leu1659=) rs368044748 0.00004
NM_000091.5(COL4A3):c.2489-9C>T rs749574789 0.00003
NM_000091.5(COL4A3):c.714G>A (p.Pro238=) rs555225084 0.00003
NM_000092.5(COL4A4):c.3012G>A (p.Pro1004=) rs778433928 0.00003
NM_000092.5(COL4A4):c.4091-18C>T rs368900542 0.00003
NM_000092.5(COL4A4):c.4091-336C>T rs925971110 0.00003
NM_000092.5(COL4A4):c.4091-356_4091-355dup rs1553620826 0.00003
NM_000092.5(COL4A4):c.4098G>A (p.Pro1366=) rs772611085 0.00003
NM_000092.5(COL4A4):c.665C>T (p.Pro222Leu) rs773533313 0.00003
NM_000092.5(COL4A4):c.72-18G>A rs770916599 0.00003
NM_000091.5(COL4A3):c.1875T>C (p.Gly625=) rs748004604 0.00002
NM_000091.5(COL4A3):c.1908C>T (p.Pro636=) rs751356130 0.00002
NM_000091.5(COL4A3):c.964T>C (p.Leu322=) rs1213929853 0.00002
NM_000092.5(COL4A4):c.1987+8T>A rs780277266 0.00002
NM_000092.5(COL4A4):c.4091-330T>C rs774439386 0.00002
NM_000092.5(COL4A4):c.4971A>G (p.Ala1657=) rs371571953 0.00002
NM_000091.5(COL4A3):c.1539A>C (p.Pro513=) rs749945759 0.00001
NM_000091.5(COL4A3):c.1860C>T (p.Pro620=) rs376896231 0.00001
NM_000091.5(COL4A3):c.1944C>T (p.Leu648=) rs199554662 0.00001
NM_000091.5(COL4A3):c.2040G>C (p.Gly680=) rs776512229 0.00001
NM_000091.5(COL4A3):c.2489-5C>T rs1351916467 0.00001
NM_000091.5(COL4A3):c.3337+15T>C rs1230244758 0.00001
NM_000091.5(COL4A3):c.3498C>T (p.Ala1166=) rs754567461 0.00001
NM_000091.5(COL4A3):c.3582G>T (p.Arg1194Ser) rs761347389 0.00001
NM_000091.5(COL4A3):c.3816T>C (p.Ser1272=) rs376887131 0.00001
NM_000091.5(COL4A3):c.4578A>C (p.Pro1526=) rs1309123639 0.00001
NM_000091.5(COL4A3):c.45G>A (p.Pro15=) rs542100614 0.00001
NM_000091.5(COL4A3):c.4756-68A>G rs1042360366 0.00001
NM_000091.5(COL4A3):c.4851T>C (p.His1617=) rs74379096 0.00001
NM_000091.5(COL4A3):c.933+9T>C rs752703682 0.00001
NM_000092.5(COL4A4):c.2383+9G>C rs746435134 0.00001
NM_000092.5(COL4A4):c.3978A>G (p.Pro1326=) rs780675797 0.00001
NM_000092.5(COL4A4):c.3984A>T (p.Gly1328=) rs750748339 0.00001
NM_000092.5(COL4A4):c.4038T>C (p.Gly1346=) rs565940301 0.00001
NM_000092.5(COL4A4):c.4053A>G (p.Pro1351=) rs1553624041 0.00001
NM_000092.5(COL4A4):c.4081+7T>C rs779775976 0.00001
NM_000092.5(COL4A4):c.4803C>T (p.Phe1601=) rs754693636 0.00001
NM_000091.5(COL4A3):c.1311G>C (p.Pro437=) rs369557944
NM_000091.5(COL4A3):c.1408+35C>T rs771642290
NM_000091.5(COL4A3):c.1863A>G (p.Gln621=) rs771390525
NM_000091.5(COL4A3):c.222G>A (p.Pro74=) rs187950806
NM_000091.5(COL4A3):c.2375-18T>C rs1449018778
NM_000091.5(COL4A3):c.2746+9T>C rs367574148
NM_000091.5(COL4A3):c.280-10_280-9del rs768505729
NM_000091.5(COL4A3):c.3211-7A>G rs2106226162
NM_000091.5(COL4A3):c.325-18G>T rs777117192
NM_000091.5(COL4A3):c.3756G>A (p.Ala1252=) rs112516617
NM_000091.5(COL4A3):c.384T>C (p.Ser128=) rs2125910138
NM_000091.5(COL4A3):c.4028-15T>C rs764478470
NM_000091.5(COL4A3):c.43_54del (p.Pro15_Leu18del) rs570469692
NM_000091.5(COL4A3):c.4756-69A>G rs2106294242
NM_000091.5(COL4A3):c.4756-74A>C rs2106294221
NM_000091.5(COL4A3):c.766-7T>C rs777532605
NM_000091.5(COL4A3):c.828+84T>G rs2125935070
NM_000092.5(COL4A4):c.1176C>T (p.Leu392=) rs759536932
NM_000092.5(COL4A4):c.1370-17C>A rs369350196
NM_000092.5(COL4A4):c.1459+16dup rs763434195
NM_000092.5(COL4A4):c.1987+15dup rs754189803
NM_000092.5(COL4A4):c.2164+15_2164+16insTTTG
NM_000092.5(COL4A4):c.2164+19_2164+20insTTTTG rs749658792
NM_000092.5(COL4A4):c.297T>A (p.Pro99=) rs1576662029
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser) rs531161419
NM_000092.5(COL4A4):c.3306C>G (p.Ser1102=) rs200065408
NM_000092.5(COL4A4):c.3306C>T (p.Ser1102=) rs200065408
NM_000092.5(COL4A4):c.3570T>A (p.Gly1190=) rs1575931307
NM_000092.5(COL4A4):c.4081+15T>C rs1356475870
NM_000092.5(COL4A4):c.4081+22A>C rs1553623967
NM_000092.5(COL4A4):c.4081+22A>G rs1553623967
NM_000092.5(COL4A4):c.4091-323A>G rs774221440
NM_000092.5(COL4A4):c.4091-346A>G rs753906137
NM_000092.5(COL4A4):c.4091-348T>C rs1553620812
NM_000092.5(COL4A4):c.4091-349G>A rs1434118080
NM_000092.5(COL4A4):c.4278T>C (p.Pro1426=) rs2149764265

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