ClinVar Miner

List of variants in gene COL4A5 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 94
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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.2349G>A (p.Pro783=) rs3747408 0.11046
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
NM_033380.3(COL4A5):c.2055T>C (p.Leu685=) rs7884085 0.10905
NM_033380.3(COL4A5):c.1095G>C (p.Gly365=) rs2272945 0.10302
NM_033380.3(COL4A5):c.4293C>T (p.Asp1431=) rs61746140 0.10149
NM_033380.3(COL4A5):c.2768-11A>G rs1006269 0.09324
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.4223C>G (p.Thr1408Ser) rs151278542 0.00294
NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser) rs143945573 0.00155
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735 0.00119
NM_033380.3(COL4A5):c.580A>G (p.Ile194Val) rs145970300 0.00099
NM_033380.3(COL4A5):c.3808+7C>T rs371130625 0.00066
NM_033380.3(COL4A5):c.1187C>T (p.Pro396Leu) rs113013606 0.00047
NM_033380.3(COL4A5):c.2216C>A (p.Pro739His) rs201123438 0.00037
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala) rs104886164 0.00034
NM_033380.3(COL4A5):c.2244+9C>T rs759349551 0.00027
NM_033380.3(COL4A5):c.3771A>G (p.Gln1257=) rs148046007 0.00025
NM_033380.3(COL4A5):c.4015+5T>C rs190856675 0.00020
NM_033380.3(COL4A5):c.3426C>T (p.Pro1142=) rs780896516 0.00019
NM_033380.3(COL4A5):c.2017A>G (p.Arg673Gly) rs200348997 0.00017
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00017
NM_033380.3(COL4A5):c.3107-11A>T rs190579028 0.00015
NM_033380.3(COL4A5):c.3943-17T>G rs200247683 0.00014
NM_033380.3(COL4A5):c.3251A>C (p.Glu1084Ala) rs146873772 0.00013
NM_033380.3(COL4A5):c.488T>C (p.Met163Thr) rs142503631 0.00012
NM_033380.3(COL4A5):c.5012C>T (p.Thr1671Met) rs745360151 0.00011
NM_033380.3(COL4A5):c.861G>A (p.Glu287=) rs41300173 0.00010
NM_033380.3(COL4A5):c.4216+10C>T rs759735924 0.00008
NM_033380.3(COL4A5):c.5016G>A (p.Leu1672=) rs140088494 0.00008
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys) rs150305490 0.00008
NM_033380.3(COL4A5):c.1350A>G (p.Ile450Met) rs201481496 0.00007
NM_033380.3(COL4A5):c.3247-10G>A rs369817184 0.00007
NM_033380.3(COL4A5):c.3960G>A (p.Pro1320=) rs752288966 0.00007
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_033380.3(COL4A5):c.2348C>T (p.Pro783Leu) rs747288279 0.00005
NM_033380.3(COL4A5):c.262C>T (p.Pro88Ser) rs773883586 0.00005
NM_033380.3(COL4A5):c.4209C>T (p.Gly1403=) rs752953167 0.00005
NM_033380.3(COL4A5):c.4309C>G (p.Gln1437Glu) rs143778018 0.00005
NM_033380.3(COL4A5):c.4643C>T (p.Pro1548Leu) rs771101410 0.00004
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_033380.3(COL4A5):c.57T>C (p.Leu19=) rs766114864 0.00002
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_000495.4(COL4A5):c.1168delG
NM_000495.4(COL4A5):c.142_143dupGG
NM_033380.3(COL4A5):c.-25_-8dup rs752443408
NM_033380.3(COL4A5):c.1086GTTGCCTGG[1] (p.363LPG[1]) rs765552839
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter) rs104886094
NM_033380.3(COL4A5):c.1226G>A (p.Gly409Asp) rs104886101
NM_033380.3(COL4A5):c.1582_1583delinsA (p.Leu528fs)
NM_033380.3(COL4A5):c.1717G>A (p.Gly573Ser)
NM_033380.3(COL4A5):c.1724C>A (p.Pro575His)
NM_033380.3(COL4A5):c.1780-1G>T rs104886338
NM_033380.3(COL4A5):c.2100A>G (p.Glu700=) rs1603292056
NM_033380.3(COL4A5):c.2317C>T (p.Pro773Ser)
NM_033380.3(COL4A5):c.2339C>T (p.Pro780Leu)
NM_033380.3(COL4A5):c.2732G>A (p.Gly911Glu) rs104886363
NM_033380.3(COL4A5):c.2740_2745delinsC (p.Gly914fs)
NM_033380.3(COL4A5):c.2767+4A>G
NM_033380.3(COL4A5):c.2773G>T (p.Asp925Tyr)
NM_033380.3(COL4A5):c.2926G>T (p.Gly976Ter) rs2067108651
NM_033380.3(COL4A5):c.2954del (p.Gly985fs)
NM_033380.3(COL4A5):c.3107-1G>A
NM_033380.3(COL4A5):c.3115G>T (p.Gly1039Cys)
NM_033380.3(COL4A5):c.3170G>A (p.Gly1057Glu)
NM_033380.3(COL4A5):c.321+1G>A rs2147746303
NM_033380.3(COL4A5):c.322-12C>A
NM_033380.3(COL4A5):c.3295_3299del (p.Ser1099fs)
NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val) rs281874713
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.3427G>T (p.Gly1143Cys) rs104886228
NM_033380.3(COL4A5):c.3553+5T>C
NM_033380.3(COL4A5):c.3554-3C>G rs104886382
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser) rs1569505771
NM_033380.3(COL4A5):c.3751A>G (p.Lys1251Glu)
NM_033380.3(COL4A5):c.3826_3827delinsAT (p.Gly1276Ile)
NM_033380.3(COL4A5):c.385-2A>G rs2066062676
NM_033380.3(COL4A5):c.3964C>G (p.Leu1322Val) rs762726134
NM_033380.3(COL4A5):c.4198G>T (p.Gly1400Ter)
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys) rs144282156
NM_033380.3(COL4A5):c.4342G>T (p.Gly1448Cys)
NM_033380.3(COL4A5):c.4529-355C>T
NM_033380.3(COL4A5):c.4847C>G (p.Ser1616Ter)
NM_033380.3(COL4A5):c.4892G>A (p.Arg1631His)
NM_033380.3(COL4A5):c.4922G>A (p.Arg1641Lys)
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_033380.3(COL4A5):c.5043T>G (p.Ile1681Met)
NM_033380.3(COL4A5):c.646-6C>G rs200151467
NM_033380.3(COL4A5):c.706G>A (p.Gly236Ser)
NM_033380.3(COL4A5):c.818G>A (p.Gly273Glu) rs2147776175
NM_033380.3(COL4A5):c.830C>T (p.Pro277Leu) rs754849522

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