ClinVar Miner

List of variants in gene COL4A4 reported as likely pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.3022G>A (p.Gly1008Arg) rs371172166 0.00006
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109 0.00002
NM_000092.5(COL4A4):c.4522G>A (p.Gly1508Ser) rs1003748020 0.00001
NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724 0.00001
NM_000092.5(COL4A4):c.5048G>A (p.Cys1683Tyr) rs1386495377 0.00001
NM_000092.5(COL4A4):c.559-2A>G rs766243664 0.00001
NM_000092.5(COL4A4):c.559-2A>T rs766243664 0.00001
NM_000092.5(COL4A4):c.975+1G>A rs1553683192 0.00001
NC_000002.11:g.(?_227917001)_(227924979_?)del
NC_000002.11:g.(?_227922145)_(227927324_?)del
NC_000002.11:g.(?_227945139)_(227976449_?)del
NC_000002.11:g.(?_227946821)_(227964415_?)dup
NC_000002.11:g.(?_227973277)_(227974022_?)del
NM_000092.5(COL4A4):c.1022G>A (p.Gly341Asp)
NM_000092.5(COL4A4):c.1030-2A>C rs1553681714
NM_000092.5(COL4A4):c.1108G>C (p.Gly370Arg)
NM_000092.5(COL4A4):c.114+1G>A
NM_000092.5(COL4A4):c.114+1G>T rs1553712110
NM_000092.5(COL4A4):c.1327_1344del (p.Pro444_Leu449del) rs1203564054
NM_000092.5(COL4A4):c.1369+1G>A rs1553676230
NM_000092.5(COL4A4):c.1370-2A>C
NM_000092.5(COL4A4):c.1370-2A>G rs2059823776
NM_000092.5(COL4A4):c.1423G>T (p.Gly475Cys) rs1371408968
NM_000092.5(COL4A4):c.1424G>T (p.Gly475Val) rs1559594442
NM_000092.5(COL4A4):c.1433G>A (p.Gly478Glu)
NM_000092.5(COL4A4):c.1460-1G>C rs2150597099
NM_000092.5(COL4A4):c.1579G>C (p.Gly527Arg)
NM_000092.5(COL4A4):c.1580G>A (p.Gly527Asp) rs1358624171
NM_000092.5(COL4A4):c.1696+1G>A rs954701825
NM_000092.5(COL4A4):c.1696+1G>T rs954701825
NM_000092.5(COL4A4):c.1804-2del
NM_000092.5(COL4A4):c.1855G>A (p.Gly619Ser) rs2150476860
NM_000092.5(COL4A4):c.192+1G>T rs2125291407
NM_000092.5(COL4A4):c.1988-2A>T rs1576238292
NM_000092.5(COL4A4):c.2057-1G>A rs2150288556
NM_000092.5(COL4A4):c.2270G>A (p.Gly757Glu)
NM_000092.5(COL4A4):c.2320G>A (p.Gly774Ser)
NM_000092.5(COL4A4):c.2374G>A (p.Gly792Arg) rs768003309
NM_000092.5(COL4A4):c.2438G>A (p.Gly813Glu) rs2150251009
NM_000092.5(COL4A4):c.2545+1G>A
NM_000092.5(COL4A4):c.2545+2T>G rs1559515075
NM_000092.5(COL4A4):c.2546-1G>A
NM_000092.5(COL4A4):c.2546-1G>C rs1553641728
NM_000092.5(COL4A4):c.2716+2T>A
NM_000092.5(COL4A4):c.2717-2A>G rs2150221409
NM_000092.5(COL4A4):c.2861-10A>G
NM_000092.5(COL4A4):c.3169G>A (p.Gly1057Ser)
NM_000092.5(COL4A4):c.3214+1G>A rs747167770
NM_000092.5(COL4A4):c.3214+2T>A
NM_000092.5(COL4A4):c.3272G>A (p.Gly1091Asp)
NM_000092.5(COL4A4):c.3308G>C (p.Gly1103Ala)
NM_000092.5(COL4A4):c.3397+1G>C rs1212090722
NM_000092.5(COL4A4):c.3398-1G>T
NM_000092.5(COL4A4):c.3506-13_3528del rs2149993330
NM_000092.5(COL4A4):c.3578-2A>G
NM_000092.5(COL4A4):c.373-2A>G rs2125001412
NM_000092.5(COL4A4):c.3818-1G>A
NM_000092.5(COL4A4):c.3973+1G>T rs755478262
NM_000092.5(COL4A4):c.4082-1G>T rs1559438651
NM_000092.5(COL4A4):c.4082-2A>G
NM_000092.5(COL4A4):c.4090+2T>G
NM_000092.5(COL4A4):c.4091-8_4092del
NM_000092.5(COL4A4):c.4216+1del rs1064796549
NM_000092.5(COL4A4):c.4217-1G>A rs1161487989
NM_000092.5(COL4A4):c.428G>T (p.Gly143Val) rs1553695389
NM_000092.5(COL4A4):c.4333+1G>T rs1963883799
NM_000092.5(COL4A4):c.4333+2T>C rs755927061
NM_000092.5(COL4A4):c.4334-23A>G rs766501515
NM_000092.5(COL4A4):c.445G>A (p.Gly149Arg)
NM_000092.5(COL4A4):c.446G>A (p.Gly149Glu)
NM_000092.5(COL4A4):c.4522+1G>T rs2149743261
NM_000092.5(COL4A4):c.4781_4807dup (p.Ser1594_Leu1602dup) rs2149719615
NM_000092.5(COL4A4):c.482G>T (p.Gly161Val) rs745672795
NM_000092.5(COL4A4):c.490-1G>C
NM_000092.5(COL4A4):c.490-1G>T
NM_000092.5(COL4A4):c.4900T>C (p.Cys1634Arg)
NM_000092.5(COL4A4):c.5044del (p.Arg1682fs) rs2149713086
NM_000092.5(COL4A4):c.657+1G>T rs1553688696
NM_000092.5(COL4A4):c.658-2A>G rs2061011908
NM_000092.5(COL4A4):c.693+2T>C
NM_000092.5(COL4A4):c.72-1G>T rs2063421489
NM_000092.5(COL4A4):c.816+2T>G
NM_000092.5(COL4A4):c.817-1G>A rs2150794687
NM_000092.5(COL4A4):c.817-1G>C rs2150794687
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000092.5(COL4A4):c.871-1G>A rs375450996
NM_000092.5(COL4A4):c.871-1G>C rs375450996
NM_000092.5(COL4A4):c.930+1G>A rs2150787516
NM_000092.5(COL4A4):c.975+2T>C
NM_000092.5(COL4A4):c.976-2A>G

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