ClinVar Miner

List of variants reported as likely pathogenic for Alport syndrome, autosomal recessive

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 114
Download table as spreadsheet
HGVS dbSNP
NM_000091.4(COL4A3):c.1143_1150+1del9 rs1274459294
NM_000091.4(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239
NM_000091.4(COL4A3):c.1315G>A (p.Gly439Ser) rs1553755124
NM_000091.4(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.4(COL4A3):c.1370_1378del9 (p.Leu457_Ser459del) rs1553755767
NM_000091.4(COL4A3):c.145-2_145-1delAG rs1491486533
NM_000091.4(COL4A3):c.1758+1G>A rs1553757096
NM_000091.4(COL4A3):c.1806_1814del9 (p.Ser606_Gly608del) rs1444785718
NM_000091.4(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668
NM_000091.4(COL4A3):c.1927+2T>C rs1158937060
NM_000091.4(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451
NM_000091.4(COL4A3):c.1A>C (p.Met1Leu) rs1396602090
NM_000091.4(COL4A3):c.2065G>A (p.Gly689Arg) rs1553758919
NM_000091.4(COL4A3):c.2215G>A (p.Gly739Arg) rs375040636
NM_000091.4(COL4A3):c.2223+1G>A rs1553759476
NM_000091.4(COL4A3):c.2323_2340del18 (p.Leu775_Gly780del) rs1306992119
NM_000091.4(COL4A3):c.2328_2336del9 (p.Leu778_Gly780del) rs1553759665
NM_000091.4(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654
NM_000091.4(COL4A3):c.2417dup (p.Gly807Argfs) rs1440033157
NM_000091.4(COL4A3):c.2535delC (p.Leu846Trpfs) rs993103826
NM_000091.4(COL4A3):c.2747-1G>C rs1196996393
NM_000091.4(COL4A3):c.279+1G>A rs202001097
NM_000091.4(COL4A3):c.2838_2839delGA (p.Glu946Aspfs) rs1553760802
NM_000091.4(COL4A3):c.2954G>T (p.Gly985Val) rs121912827
NM_000091.4(COL4A3):c.2T>C (p.Met1Thr) rs1553725815
NM_000091.4(COL4A3):c.309_317del9 (p.Ser104_Gly106del) rs1553750572
NM_000091.4(COL4A3):c.3148C>T (p.Gln1050Ter) rs1553762279
NM_000091.4(COL4A3):c.3210+1G>A rs1553762314
NM_000091.4(COL4A3):c.3211-1G>C rs1553762936
NM_000091.4(COL4A3):c.325-1G>A rs762518741
NM_000091.4(COL4A3):c.3257G>A (p.Gly1086Glu)
NM_000091.4(COL4A3):c.3321_3329del9 (p.Ser1108_Gly1110del) rs756539994
NM_000091.4(COL4A3):c.3454G>C (p.Gly1152Arg) rs749383170
NM_000091.4(COL4A3):c.3472G>C (p.Gly1158Arg) rs914878176
NM_000091.4(COL4A3):c.3682G>C (p.Gly1228Arg)
NM_000091.4(COL4A3):c.3751+1G>A rs781566652
NM_000091.4(COL4A3):c.388-1G>T rs1553750900
NM_000091.4(COL4A3):c.3883-2A>G rs1553765265
NM_000091.4(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010
NM_000091.4(COL4A3):c.4486C>T (p.Arg1496Ter) rs769863513
NM_000091.4(COL4A3):c.4546C>T (p.Arg1516Ter) rs759873621
NM_000091.4(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000091.4(COL4A3):c.4640+1G>A rs1553766404
NM_000091.4(COL4A3):c.468+1G>A rs1553751122
NM_000091.4(COL4A3):c.468+1G>T rs1553751122
NM_000091.4(COL4A3):c.468+1delG rs1553751120
NM_000091.4(COL4A3):c.4756-1G>A rs1553766735
NM_000091.4(COL4A3):c.4783G>A (p.Gly1595Arg)
NM_000091.4(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590
NM_000091.4(COL4A3):c.4802delC (p.Pro1601Leufs) rs867868993
NM_000091.4(COL4A3):c.4803delT (p.Gly1602Alafs) rs760846085
NM_000091.4(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749
NM_000091.4(COL4A3):c.4872C>G (p.Tyr1624Ter) rs1351781261
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.4(COL4A3):c.645+2T>C rs1553752199
NM_000091.4(COL4A3):c.663_664delAG (p.Arg221Serfs) rs1469479748
NM_000091.4(COL4A3):c.713dup (p.Pro240Thrfs) rs988439345
NM_000091.4(COL4A3):c.829-2A>C rs1553753119
NM_000091.4(COL4A3):c.890G>A (p.Gly297Glu) rs1422638161
NM_000091.4(COL4A3):c.949_950delAG (p.Arg317Glyfs) rs756133651
NM_000091.4:c.1900G>A;c.1927G>A
NM_000092.4(COL4A4):c.1029+2T>C rs1553682895
NM_000092.4(COL4A4):c.1030-2A>C rs1553681714
NM_000092.4(COL4A4):c.1033_1050del18 (p.Asp345_Gly350del) rs990679247
NM_000092.4(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235
NM_000092.4(COL4A4):c.114+1G>C rs1553712110
NM_000092.4(COL4A4):c.1323_1340del18 (p.Pro444_Leu449del) rs773081522
NM_000092.4(COL4A4):c.1327_1344del18 (p.Pro444_Leu449del) rs1203564054
NM_000092.4(COL4A4):c.1369+1G>A rs1553676230
NM_000092.4(COL4A4):c.1405G>T (p.Gly469Ter) rs926605269
NM_000092.4(COL4A4):c.1579G>T (p.Gly527Cys) rs779930511
NM_000092.4(COL4A4):c.1696+1G>A rs954701825
NM_000092.4(COL4A4):c.1696+1G>T rs954701825
NM_000092.4(COL4A4):c.1715G>C (p.Gly572Ala) rs1446915781
NM_000092.4(COL4A4):c.1935_1952del18 (p.Pro647_Val652del) rs1553658892
NM_000092.4(COL4A4):c.2084G>A (p.Gly695Asp) rs1553644402
NM_000092.4(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460
NM_000092.4(COL4A4):c.2279dup (p.Asp761Argfs) rs1553643669
NM_000092.4(COL4A4):c.2320G>C rs569681869
NM_000092.4(COL4A4):c.2374G>A (p.Gly792Arg) rs768003309
NM_000092.4(COL4A4):c.2510G>C (p.Gly837Ala) rs201648982
NM_000092.4(COL4A4):c.2546-1G>C rs1553641728
NM_000092.4(COL4A4):c.2590G>A (p.Gly864Arg) rs937550597
NM_000092.4(COL4A4):c.2662G>A (p.Gly888Arg) rs1363277825
NM_000092.4(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860
NM_000092.4(COL4A4):c.2878G>A (p.Gly960Arg) rs769783985
NM_000092.4(COL4A4):c.2967_2968delAG (p.Gly990Terfs) rs748473278
NM_000092.4(COL4A4):c.3089G>A (p.Gly1030Asp) rs772699709
NM_000092.4(COL4A4):c.3151-2A>G rs1369097739
NM_000092.4(COL4A4):c.328-1G>A rs754669149
NM_000092.4(COL4A4):c.3307G>A (p.Gly1103Arg) rs749299357
NM_000092.4(COL4A4):c.3574_3577+8delTCAGGTAAGCAC rs1553627655
NM_000092.4(COL4A4):c.372+2T>G rs1553696207
NM_000092.4(COL4A4):c.3967C>T (p.Gln1323Ter) rs1489351299
NM_000092.4(COL4A4):c.4002_4005dup (p.His1336Thrfs) rs1553624127
NM_000092.4(COL4A4):c.4333+2T>C rs755927061
NM_000092.4(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000092.4(COL4A4):c.4599T>G (p.Tyr1533Ter) rs369922627
NM_000092.4(COL4A4):c.4623C>G (p.Tyr1541Ter) rs891854419
NM_000092.4(COL4A4):c.4679_4683del5 (p.Arg1560Leufs) rs1553612499
NM_000092.4(COL4A4):c.4760delC (p.Pro1587Hisfs) rs1206142672
NM_000092.4(COL4A4):c.4809+1G>A rs1553612309
NM_000092.4(COL4A4):c.4903C>T (p.Gln1635Ter) rs1553611947
NM_000092.4(COL4A4):c.4932delCinsTT (p.Ala1645Cysfs) rs1553611909
NM_000092.4(COL4A4):c.4948T>C (p.Phe1650Leu) rs1553611876
NM_000092.4(COL4A4):c.559_562dup (p.Asp188Glyfs) rs1553690604
NM_000092.4(COL4A4):c.594+1G>A rs1553690565
NM_000092.4(COL4A4):c.644_646delAGC (p.Glu215_Pro216delinsAla) rs1553688712
NM_000092.4(COL4A4):c.657+1G>T rs1553688696
NM_000092.4(COL4A4):c.673_680del8 (p.Pro225Serfs) rs1553688330
NM_000092.4(COL4A4):c.71G>A (p.Trp24Ter) rs1201925443
NM_000092.4(COL4A4):c.871-1G>C rs375450996
NM_000092.4(COL4A4):c.975+1G>A rs1553683192
NM_000092.4(COL4A4):c.975+1G>C rs1553683192

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.