ClinVar Miner

List of variants studied for X-linked Alport syndrome by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.3513A>G (p.Gln1171=) rs2273051 0.14310
NM_033380.3(COL4A5):c.2349G>A (p.Pro783=) rs3747408 0.11046
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
NM_033380.3(COL4A5):c.2055T>C (p.Leu685=) rs7884085 0.10905
NM_033380.3(COL4A5):c.1095G>C (p.Gly365=) rs2272945 0.10302
NM_033380.3(COL4A5):c.4293C>T (p.Asp1431=) rs61746140 0.10149
NM_033380.3(COL4A5):c.3519T>G (p.Gly1173=) rs61735627 0.03239
NM_033380.3(COL4A5):c.4500A>G (p.Gly1500=) rs145378707 0.00920
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891 0.00418
NM_033380.3(COL4A5):c.4223C>G (p.Thr1408Ser) rs151278542 0.00294
NM_033380.3(COL4A5):c.909T>C (p.Asp303=) rs144586397 0.00122
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735 0.00119
NM_033380.3(COL4A5):c.580A>G (p.Ile194Val) rs145970300 0.00099
NM_033380.3(COL4A5):c.834+8C>A rs201717817 0.00066
NM_033380.3(COL4A5):c.1187C>T (p.Pro396Leu) rs113013606 0.00047
NM_033380.3(COL4A5):c.2768-10T>C rs370284884 0.00038
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala) rs104886164 0.00034
NM_033380.3(COL4A5):c.4353A>T (p.Gly1451=) rs146884759 0.00028
NM_033380.3(COL4A5):c.3771A>G (p.Gln1257=) rs148046007 0.00025
NM_033380.3(COL4A5):c.2979T>G (p.Pro993=) rs41306255 0.00024
NM_033380.3(COL4A5):c.2400T>C (p.Asp800=) rs372505008 0.00021
NM_033380.3(COL4A5):c.3296C>T (p.Ser1099Phe) rs767087695 0.00021
NM_033380.3(COL4A5):c.4015+5T>C rs190856675 0.00020
NM_033380.3(COL4A5):c.2017A>G (p.Arg673Gly) rs200348997 0.00017
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00017
NM_033380.3(COL4A5):c.3029A>G (p.Asn1010Ser) rs151077921 0.00015
NM_033380.3(COL4A5):c.858T>C (p.Gly286=) rs183837448 0.00014
NM_033380.3(COL4A5):c.3251A>C (p.Glu1084Ala) rs146873772 0.00013
NM_033380.3(COL4A5):c.2571A>G (p.Gly857=) rs41311553 0.00012
NM_033380.3(COL4A5):c.4315+9A>T rs764116323 0.00012
NM_033380.3(COL4A5):c.4087+6A>T rs748429212 0.00010
NM_033380.3(COL4A5):c.4217-6C>T rs764326196 0.00010
NM_033380.3(COL4A5):c.568A>G (p.Ile190Val) rs367890539 0.00010
NM_033380.3(COL4A5):c.861G>A (p.Glu287=) rs41300173 0.00010
NM_033380.3(COL4A5):c.4075A>G (p.Ile1359Val) rs748850424 0.00009
NM_033380.3(COL4A5):c.4741G>T (p.Ala1581Ser) rs151130451 0.00009
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys) rs150305490 0.00008
NM_033380.3(COL4A5):c.1350A>G (p.Ile450Met) rs201481496 0.00007
NM_033380.3(COL4A5):c.3247-10G>A rs369817184 0.00007
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val) rs747614562 0.00007
NM_033380.3(COL4A5):c.646-6C>T rs200151467 0.00007
NM_033380.3(COL4A5):c.1586C>A (p.Pro529Gln) rs758983710 0.00006
NM_033380.3(COL4A5):c.3468T>C (p.His1156=) rs769984503 0.00006
NM_033380.3(COL4A5):c.3923A>G (p.Gln1308Arg) rs104886399 0.00006
NM_033380.3(COL4A5):c.1584A>G (p.Leu528=) rs370355907 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_033380.3(COL4A5):c.4209C>T (p.Gly1403=) rs752953167 0.00005
NM_033380.3(COL4A5):c.1043G>A (p.Arg348Lys) rs377663039 0.00004
NM_033380.3(COL4A5):c.3955C>T (p.Arg1319Trp) rs138903372 0.00004
NM_033380.3(COL4A5):c.443C>T (p.Pro148Leu) rs773404950 0.00004
NM_033380.3(COL4A5):c.1827T>A (p.Gly609=) rs756142410 0.00003
NM_033380.3(COL4A5):c.1909C>A (p.Gln637Lys) rs368347660 0.00003
NM_033380.3(COL4A5):c.2604C>T (p.Pro868=) rs781337825 0.00003
NM_033380.3(COL4A5):c.3684C>T (p.His1228=) rs369744863 0.00003
NM_033380.3(COL4A5):c.4175T>C (p.Leu1392Pro) rs754420396 0.00003
NM_033380.3(COL4A5):c.1057A>G (p.Ile353Val) rs769214642 0.00002
NM_033380.3(COL4A5):c.1296G>C (p.Gly432=) rs755291471 0.00002
NM_033380.3(COL4A5):c.142-6T>C rs1047699266 0.00002
NM_033380.3(COL4A5):c.1810C>A (p.Pro604Thr) rs183934559 0.00002
NM_033380.3(COL4A5):c.677A>C (p.Lys226Thr) rs991159149 0.00002
NM_033380.3(COL4A5):c.750A>G (p.Pro250=) rs1163287222 0.00002
NM_033380.3(COL4A5):c.142-4G>T rs780759600 0.00001
NM_033380.3(COL4A5):c.1635T>G (p.Gly545=) rs1329747854 0.00001
NM_033380.3(COL4A5):c.213G>A (p.Pro71=) rs764172210 0.00001
NM_033380.3(COL4A5):c.2290C>T (p.Leu764Phe) rs2066735216 0.00001
NM_033380.3(COL4A5):c.2362C>T (p.Arg788Cys) rs762935451 0.00001
NM_033380.3(COL4A5):c.2466A>G (p.Gly822=) rs375746429 0.00001
NM_033380.3(COL4A5):c.2657C>G (p.Ala886Gly) rs367714441 0.00001
NM_033380.3(COL4A5):c.3084C>T (p.Thr1028=) rs141043288 0.00001
NM_033380.3(COL4A5):c.3878C>T (p.Pro1293Leu) rs1397121500 0.00001
NM_033380.3(COL4A5):c.4726C>G (p.Pro1576Ala) rs747041833 0.00001
NM_033380.3(COL4A5):c.779A>G (p.Gln260Arg) rs372889859 0.00001
NM_033380.3(COL4A5):c.-25_-8dup rs752443408
NM_033380.3(COL4A5):c.1032+17del rs761615270
NM_033380.3(COL4A5):c.1032+17dup rs761615270
NM_033380.3(COL4A5):c.1047T>C (p.Pro349=) rs1166405194
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter) rs104886094
NM_033380.3(COL4A5):c.1376dup (p.Gly460fs) rs104886113
NM_033380.3(COL4A5):c.1948+4A>C rs1311897513
NM_033380.3(COL4A5):c.2510-1_2514del rs2147859764
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.3357C>A (p.Gly1119=) rs773019423
NM_033380.3(COL4A5):c.3829C>A (p.Pro1277Thr) rs761470284
NM_033380.3(COL4A5):c.385G>A (p.Gly129Arg) rs281874722
NM_033380.3(COL4A5):c.406A>G (p.Ser136Gly) rs768580195
NM_033380.3(COL4A5):c.40T>G (p.Leu14Val) rs760570519
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys) rs144282156
NM_033380.3(COL4A5):c.4529-6T>C rs775079914
NM_033380.3(COL4A5):c.4652T>C (p.Met1551Thr) rs1057518146
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_033380.3(COL4A5):c.4972G>C (p.Val1658Leu) rs2068718130

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