ClinVar Miner

List of variants in gene COL4A5 reported by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.3513A>G (p.Gln1171=) rs2273051 0.14310
NM_033380.3(COL4A5):c.3519T>G (p.Gly1173=) rs61735627 0.03239
NM_033380.3(COL4A5):c.1992G>T (p.Lys664Asn) rs34077552 0.00745
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891 0.00418
NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser) rs143945573 0.00155
NM_033380.3(COL4A5):c.909T>C (p.Asp303=) rs144586397 0.00122
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735 0.00119
NM_033380.3(COL4A5):c.2216C>A (p.Pro739His) rs201123438 0.00037
NM_033380.3(COL4A5):c.3958C>T (p.Pro1320Ser) rs754836509 0.00013
NM_033380.3(COL4A5):c.646-6C>T rs200151467 0.00007
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_033380.3(COL4A5):c.796C>G (p.Arg266Gly) rs104886071 0.00004
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_033380.3(COL4A5):c.1340-1G>A rs753437190 0.00001
NM_033380.3(COL4A5):c.4693C>G (p.Pro1565Ala) rs104886295 0.00001
NM_033380.3(COL4A5):c.4726C>G (p.Pro1576Ala) rs747041833 0.00001
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys) rs865842167 0.00001
NM_033380.3(COL4A5):c.1032+1G>C rs1569491753
NM_033380.3(COL4A5):c.1032+5G>A rs104886315
NM_033380.3(COL4A5):c.1032+5G>T rs104886315
NM_033380.3(COL4A5):c.1033-3A>G rs2066339277
NM_033380.3(COL4A5):c.1084G>A (p.Gly362Arg) rs281874656
NM_033380.3(COL4A5):c.1093G>A (p.Gly365Arg) rs2147788229
NM_033380.3(COL4A5):c.1111G>T (p.Gly371Ter) rs878853015
NM_033380.3(COL4A5):c.1258G>A (p.Gly420Arg) rs1556410266
NM_033380.3(COL4A5):c.1259G>T (p.Gly420Val) rs281874663
NM_033380.3(COL4A5):c.1508G>T (p.Gly503Val) rs1569493679
NM_033380.3(COL4A5):c.1738C>T (p.Gln580Ter) rs281874676
NM_033380.3(COL4A5):c.1779+1G>A rs104886337
NM_033380.3(COL4A5):c.1895G>T (p.Gly632Val)
NM_033380.3(COL4A5):c.2003C>T (p.Pro668Leu)
NM_033380.3(COL4A5):c.2019A>T (p.Arg673Ser) rs1569494902
NM_033380.3(COL4A5):c.2024_2029del (p.Gly675_Asp676del) rs1569494903
NM_033380.3(COL4A5):c.2095G>T (p.Gly699Ter) rs1569495049
NM_033380.3(COL4A5):c.2142dup (p.Lys715fs) rs1603292081
NM_033380.3(COL4A5):c.2396-1G>C rs886041509
NM_033380.3(COL4A5):c.2414G>A (p.Gly805Glu) rs1556418210
NM_033380.3(COL4A5):c.2431G>A (p.Gly811Arg) rs104886182
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1]) rs104886356
NM_033380.3(COL4A5):c.2500G>C (p.Gly834Arg) rs281874696
NM_033380.3(COL4A5):c.2509+1G>A rs1556418287
NM_033380.3(COL4A5):c.2509+5G>C rs1556418297
NM_033380.3(COL4A5):c.2513T>G (p.Leu838Ter) rs1603297223
NM_033380.3(COL4A5):c.2538_2539dup (p.Asp847fs) rs1556419800
NM_033380.3(COL4A5):c.2696G>A (p.Gly899Asp) rs281874702
NM_033380.3(COL4A5):c.2767+1G>C rs1603297903
NM_033380.3(COL4A5):c.3196G>A (p.Gly1066Ser) rs104886219
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp) rs104886221
NM_033380.3(COL4A5):c.3197G>T (p.Gly1066Val) rs104886221
NM_033380.3(COL4A5):c.3238G>C (p.Gly1080Arg) rs1556421731
NM_033380.3(COL4A5):c.3368del (p.Phe1123fs) rs1569504092
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp) rs1131691795
NM_033380.3(COL4A5):c.3427G>T (p.Gly1143Cys) rs104886228
NM_033380.3(COL4A5):c.3585del (p.Gly1196fs) rs1569505604
NM_033380.3(COL4A5):c.3586G>A (p.Gly1196Arg) rs104886244
NM_033380.3(COL4A5):c.3614G>A (p.Gly1205Asp) rs1556446493
NM_033380.3(COL4A5):c.3695del (p.Gly1232fs) rs1556446657
NM_033380.3(COL4A5):c.3731G>A (p.Gly1244Asp) rs104886261
NM_033380.3(COL4A5):c.3787C>T (p.Pro1263Ser) rs1012489715
NM_033380.3(COL4A5):c.3872dup (p.Asn1292fs) rs2068330297
NM_033380.3(COL4A5):c.3940C>T (p.Gln1314Ter) rs2147975189
NM_033380.3(COL4A5):c.404G>A (p.Gly135Asp) rs1556403086
NM_033380.3(COL4A5):c.4063del (p.Glu1355fs) rs1556453276
NM_033380.3(COL4A5):c.4087+1G>A rs587776401
NM_033380.3(COL4A5):c.4106del (p.Gly1369fs) rs1569507535
NM_033380.3(COL4A5):c.4529-6T>C rs775079914
NM_033380.3(COL4A5):c.4568C>G (p.Pro1523Arg) rs1603326447
NM_033380.3(COL4A5):c.458G>T (p.Gly153Val) rs1569488946
NM_033380.3(COL4A5):c.465+1_465+5del rs1556403276
NM_033380.3(COL4A5):c.465+2_465+3dup rs1569488954
NM_033380.3(COL4A5):c.466-13T>A rs1569489302
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) rs281874743
NM_033380.3(COL4A5):c.4707-1G>C rs1556462917
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_033380.3(COL4A5):c.511G>C (p.Gly171Arg) rs1556404027
NM_033380.3(COL4A5):c.611_612del (p.Gly204fs) rs281874759
NM_033380.3(COL4A5):c.646-6C>G rs200151467
NM_033380.3(COL4A5):c.781-1G>A rs1603283547
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter) rs104886071
NM_033380.3(COL4A5):c.81G>A (p.Ala27=) rs1569469478
NM_033380.3(COL4A5):c.874G>A (p.Gly292Arg) rs104886073
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
NM_033380.3(COL4A5):c.935del (p.Pro312fs) rs1556407078
NM_033380.3(COL4A5):c.983del (p.Gly328fs) rs1556407684

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