ClinVar Miner

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

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Total variants: 59
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HGVS dbSNP
COL4A3, 5-BP DEL, NT4414
COL4A3, ALU INS, EX6
GRCh37/hg19 2q36.3(chr2:227942610-227945265)
GRCh37/hg19 2q36.3(chr2:228167754-228169799)
NM_000091.4(COL4A3):c.[3490G>T];[687G>A]
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys) rs1559873550
NM_000091.5(COL4A3):c.1175G>A (p.Gly392Glu) rs1114167371
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg) rs1574753929
NM_000091.5(COL4A3):c.2031_2038dup (p.Gly680fs) rs1553758893
NM_000091.5(COL4A3):c.2371C>T rs1060499654
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181
NM_000091.5(COL4A3):c.2621_2622delinsT (p.Gly874fs) rs1553760257
NM_000091.5(COL4A3):c.2746+1G>T rs1574786225
NM_000091.5(COL4A3):c.2747-1G>T rs1196996393
NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs) rs766306957
NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter) rs1453590085
NM_000091.5(COL4A3):c.3109C>T (p.Arg1037Ter) rs766900945
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.345del rs749390823
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745
NM_000091.5(COL4A3):c.351C>A (p.Tyr117Ter) rs750308686
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010
NM_000091.5(COL4A3):c.3955G>A (p.Gly1319Arg) rs765661521
NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del) rs876657397
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs) rs748026887
NM_000091.5(COL4A3):c.4420_4424del (p.Leu1474fs) rs1445615417
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter) rs121912824
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter) rs769863513
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000091.5(COL4A3):c.816dup (p.Pro273fs) rs1574701767
NM_000092.4(COL4A4):c.1320_1369+2del rs1553676221
NM_000092.4(COL4A4):c.[1320_1369+2del];[2320G>C]
NM_000092.5(COL4A4):c.1045C>T rs534522842
NM_000092.5(COL4A4):c.1324G>T (p.Gly442Cys)
NM_000092.5(COL4A4):c.1598G>A (p.Gly533Asp) rs1553669704
NM_000092.5(COL4A4):c.2312dup (p.Arg773fs)
NM_000092.5(COL4A4):c.2638_2639del (p.Ala880fs) rs1553641611
NM_000092.5(COL4A4):c.2638del (p.Ala880fs) rs778043831
NM_000092.5(COL4A4):c.2906C>G rs35138315
NM_000092.5(COL4A4):c.2908C>T (p.Gln970Ter)
NM_000092.5(COL4A4):c.3205G>C (p.Gly1069Arg)
NM_000092.5(COL4A4):c.3214+1G>T
NM_000092.5(COL4A4):c.3601G>A (p.Gly1201Ser) rs121912858
NM_000092.5(COL4A4):c.3713C>A (p.Ser1238Ter) rs121912859
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861
NM_000092.5(COL4A4):c.4426C>T (p.Gln1476Ter)
NM_000092.5(COL4A4):c.4508del (p.His1503fs)
NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs)
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs)
NM_000092.5(COL4A4):c.4694_4713del (p.Arg1565fs) rs1553612433
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863
NM_000092.5(COL4A4):c.4923C>A (p.Cys1641Ter) rs121912862
NM_000092.5(COL4A4):c.558+1G>A
NM_000092.5(COL4A4):c.559-2A>C
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.735+2T>C
NM_000092.5:c.1205_1369del

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