ClinVar Miner

List of variants studied for X-linked Alport syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00006
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_033380.3(COL4A5):c.4162G>A (p.Gly1388Ser) rs2524616692 0.00001
NM_033380.3(COL4A5):c.4693C>G (p.Pro1565Ala) rs104886295 0.00001
NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp) rs104886093
NM_033380.3(COL4A5):c.1028G>A (p.Gly343Glu) rs2524260150
NM_033380.3(COL4A5):c.1138G>C (p.Gly380Arg) rs2066342908
NM_033380.3(COL4A5):c.1213dup (p.Arg405fs) rs281874659
NM_033380.3(COL4A5):c.1225G>A (p.Gly409Ser) rs2066425550
NM_033380.3(COL4A5):c.142G>A (p.Gly48Arg) rs281874669
NM_033380.3(COL4A5):c.1498G>C (p.Gly500Arg) rs281874670
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg) rs754223700
NM_033380.3(COL4A5):c.1625G>T (p.Gly542Val) rs2524307924
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys) rs281874674
NM_033380.3(COL4A5):c.1883C>T (p.Pro628Leu) rs281874682
NM_033380.3(COL4A5):c.1949G>A (p.Gly650Asp) rs2066625021
NM_033380.3(COL4A5):c.2042-18A>G rs104886341
NM_033380.3(COL4A5):c.2104G>C (p.Gly702Arg) rs775988576
NM_033380.3(COL4A5):c.212dup (p.Pro73fs) rs2524162796
NM_033380.3(COL4A5):c.2173G>T (p.Gly725Ter) rs2524332908
NM_033380.3(COL4A5):c.2308G>C (p.Ala770Pro) rs2066736056
NM_033380.3(COL4A5):c.2333G>A (p.Gly778Asp) rs2066736770
NM_033380.3(COL4A5):c.2365A>T (p.Thr789Ser) rs963596952
NM_033380.3(COL4A5):c.2432G>T (p.Gly811Val) rs104886183
NM_033380.3(COL4A5):c.2465G>T (p.Gly822Val) rs1291655627
NM_033380.3(COL4A5):c.2473G>A (p.Gly825Arg) rs281874692
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.2835_2836del (p.Glu945fs) rs2524408042
NM_033380.3(COL4A5):c.295G>A (p.Gly99Arg) rs2066011417
NM_033380.3(COL4A5):c.3196G>A (p.Gly1066Ser) rs104886219
NM_033380.3(COL4A5):c.3247-1G>C rs1569504056
NM_033380.3(COL4A5):c.3319G>A (p.Gly1107Arg) rs104886225
NM_033380.3(COL4A5):c.3428G>A (p.Gly1143Asp) rs104886229
NM_033380.3(COL4A5):c.358G>A (p.Gly120Ser) rs2524196968
NM_033380.3(COL4A5):c.359G>A (p.Gly120Asp) rs2524196982
NM_033380.3(COL4A5):c.3604+1G>A rs2524570014
NM_033380.3(COL4A5):c.3650G>A (p.Gly1217Asp) rs1569505758
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser) rs1569505771
NM_033380.3(COL4A5):c.3689dup (p.Gly1232fs) rs2524575302
NM_033380.3(COL4A5):c.3704G>T (p.Gly1235Val) rs2068130178
NM_033380.3(COL4A5):c.3809-1G>A rs2524602187
NM_033380.3(COL4A5):c.3853G>A (p.Gly1285Ser) rs764755602
NM_033380.3(COL4A5):c.4016-2del rs2524613087
NM_033380.3(COL4A5):c.4024G>T (p.Gly1342Ter) rs1556453243
NM_033380.3(COL4A5):c.4119_4126del (p.Gln1373fs) rs2068436110
NM_033380.3(COL4A5):c.4154G>T (p.Gly1385Val) rs104886269
NM_033380.3(COL4A5):c.4180G>C (p.Gly1394Arg) rs1339067074
NM_033380.3(COL4A5):c.4334G>A (p.Gly1445Asp) rs757894483
NM_033380.3(COL4A5):c.4772del (p.His1591fs) rs2524652281
NM_033380.3(COL4A5):c.4783G>T (p.Gly1595Ter) rs2524652341
NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys) rs104886298
NM_033380.3(COL4A5):c.4912T>C (p.Cys1638Arg) rs281874750
NM_033380.3(COL4A5):c.4931G>A (p.Cys1644Tyr) rs104886302
NM_033380.3(COL4A5):c.5047C>T (p.Arg1683Ter) rs104886306
NM_033380.3(COL4A5):c.659T>A (p.Leu220Ter) rs2066183255
NM_033380.3(COL4A5):c.919G>A (p.Gly307Ser) rs2147777425
NM_033380.3(COL4A5):c.958_960dup (p.Tyr320_Pro321insTyr) rs2524254673
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg) rs104886088
NM_033380.3(COL4A5):c.973G>C (p.Gly325Arg) rs104886088
NM_033380.3(COL4A5):c.999del (p.Gly334fs) rs2524259917

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