ClinVar Miner

List of variants in gene COL4A5 reported as uncertain significance

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Total variants: 58
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HGVS dbSNP
GRCh38/hg38 Xq22.3(chrX:108447982-108538433)x3
NM_000495.5(COL4A5):c.*48_*49insAT rs1556464307
NM_000495.5(COL4A5):c.-25_-8dup rs752443408
NM_000495.5(COL4A5):c.1032+5G>A rs104886315
NM_000495.5(COL4A5):c.1032+5G>T rs104886315
NM_000495.5(COL4A5):c.1043G>A (p.Arg348Lys) rs377663039
NM_000495.5(COL4A5):c.146A>G (p.Glu49Gly) rs1569486475
NM_000495.5(COL4A5):c.1499G>T (p.Gly500Val) rs1569493670
NM_000495.5(COL4A5):c.1520C>A (p.Ser507Tyr) rs1114167369
NM_000495.5(COL4A5):c.1683A>T (p.Gly561=) rs1569494020
NM_000495.5(COL4A5):c.1969C>A (p.Gln657Lys) rs1569494866
NM_000495.5(COL4A5):c.2019A>T (p.Arg673Ser) rs1569494902
NM_000495.5(COL4A5):c.2145A>G (p.Lys715=) rs1569495067
NM_000495.5(COL4A5):c.2180C>G (p.Pro727Arg) rs753005152
NM_000495.5(COL4A5):c.2182G>A (p.Gly728Arg) rs1556414460
NM_000495.5(COL4A5):c.2206G>C (p.Glu736Gln)
NM_000495.5(COL4A5):c.2215C>G (p.Pro739Ala)
NM_000495.5(COL4A5):c.2245-14T>A rs1569495752
NM_000495.5(COL4A5):c.2295A>G (p.Pro765=) rs141247183
NM_000495.5(COL4A5):c.236A>T (p.Asp79Val) rs775277548
NM_000495.5(COL4A5):c.2509+5G>C rs1556418297
NM_000495.5(COL4A5):c.2510-33A>G rs104886358
NM_000495.5(COL4A5):c.262C>T (p.Pro88Ser)
NM_000495.5(COL4A5):c.2692A>G (p.Met898Val) rs104886192
NM_000495.5(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_000495.5(COL4A5):c.3023A>G (p.Lys1008Arg) rs142929745
NM_000495.5(COL4A5):c.3116G>A (p.Gly1039Asp) rs1556421658
NM_000495.5(COL4A5):c.3148C>G (p.Pro1050Ala) rs143945573
NM_000495.5(COL4A5):c.3296C>T (p.Ser1099Phe) rs767087695
NM_000495.5(COL4A5):c.3455-8T>G rs1569505503
NM_000495.5(COL4A5):c.3496A>G (p.Lys1166Glu) rs1064794446
NM_000495.5(COL4A5):c.3527G>A (p.Gly1176Glu) rs886042570
NM_000495.5(COL4A5):c.3787C>T (p.Pro1263Ser) rs1012489715
NM_000495.5(COL4A5):c.3940C>T (p.Pro1314Ser) rs754836509
NM_000495.5(COL4A5):c.4054C>A (p.Leu1352Ile)
NM_000495.5(COL4A5):c.4137_4139del (p.Ile1380del) rs1569507545
NM_000495.5(COL4A5):c.4228C>T (p.Arg1410Cys) rs104886270
NM_000495.5(COL4A5):c.4264C>T (p.Arg1422Cys) rs144282156
NM_000495.5(COL4A5):c.4396C>T (p.Arg1466Cys)
NM_000495.5(COL4A5):c.4532G>A (p.Arg1511His) rs104886285
NM_000495.5(COL4A5):c.4549C>A (p.Pro1517Thr) rs201220208
NM_000495.5(COL4A5):c.4568T>C (p.Ile1523Thr) rs749580257
NM_000495.5(COL4A5):c.4634T>C (p.Met1545Thr) rs1057518146
NM_000495.5(COL4A5):c.465+2_465+3dup rs1569488954
NM_000495.5(COL4A5):c.466-13T>A rs1569489302
NM_000495.5(COL4A5):c.466-17T>G rs104886415
NM_000495.5(COL4A5):c.4688+4A>C rs1569508999
NM_000495.5(COL4A5):c.4708C>G (p.Pro1570Ala)
NM_000495.5(COL4A5):c.4877C>T (p.Ser1626Leu) rs1556463567
NM_000495.5(COL4A5):c.4880C>T (p.Ala1627Val)
NM_000495.5(COL4A5):c.488T>C (p.Met163Thr) rs142503631
NM_000495.5(COL4A5):c.4942T>C (p.Trp1648Arg) rs1569509354
NM_000495.5(COL4A5):c.4976+3A>G rs1569509373
NM_000495.5(COL4A5):c.572_583del (p.Pro191_Gly195delinsArg) rs1569489843
NM_000495.5(COL4A5):c.808G>A (p.Gly270Arg) rs1556406783
NM_000495.5(COL4A5):c.81G>A (p.Ala27=) rs1569469478
NM_000495.5(COL4A5):c.858T>C (p.Gly286=) rs183837448
NM_000495.5(COL4A5):c.89A>G (p.Tyr30Cys) rs150305490

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