ClinVar Miner

List of variants in gene COL4A1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) rs150857429 0.00816
NM_001845.6(COL4A1):c.4640+8G>A rs117566874 0.00671
NM_001845.6(COL4A1):c.1121-18G>A rs139885514 0.00644
NM_001845.6(COL4A1):c.1701G>A (p.Pro567=) rs146480068 0.00458
NM_001845.6(COL4A1):c.911C>T (p.Pro304Leu) rs34843786 0.00357
NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg) rs146329532 0.00352
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222 0.00274
NM_001845.6(COL4A1):c.-103G>A rs538721412 0.00227
NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=) rs140210015 0.00194
NM_001845.6(COL4A1):c.1000-5T>G rs75711155 0.00155
NM_001845.6(COL4A1):c.1466-6C>T rs183563055 0.00149
NM_001845.6(COL4A1):c.3877-8G>A rs370539477 0.00124
NM_001845.6(COL4A1):c.3506-7C>G rs377592935 0.00105
NM_001845.6(COL4A1):c.651+4_651+5insCAC rs760194800 0.00087
NM_001845.6(COL4A1):c.957+7G>A rs58908343 0.00057
NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg) rs201964644 0.00055
NM_001845.6(COL4A1):c.690C>T (p.Asp230=) rs149688210 0.00049
NM_001845.6(COL4A1):c.708C>G (p.Val236=) rs139523466 0.00048
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989 0.00048
NM_001845.6(COL4A1):c.633C>T (p.Pro211=) rs144773264 0.00041
NM_001845.6(COL4A1):c.401C>T (p.Pro134Leu) rs140517831 0.00037
NM_001845.6(COL4A1):c.1437C>T (p.Pro479=) rs151186561 0.00031
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) rs145172612 0.00031
NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu) rs150129180 0.00025
NM_001845.6(COL4A1):c.553-8C>T rs199534388 0.00022
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr) rs138269346 0.00021
NM_001845.6(COL4A1):c.3946C>G (p.Gln1316Glu) rs377122126 0.00020
NM_001845.6(COL4A1):c.4756-22_4756-5dup rs778511113 0.00017
NM_001845.6(COL4A1):c.1725G>A (p.Ser575=) rs370332353 0.00016
NM_001845.6(COL4A1):c.3750G>A (p.Pro1250=) rs372343245 0.00016
NM_001845.6(COL4A1):c.3712C>T (p.Arg1238Cys) rs148801165 0.00015
NM_001845.6(COL4A1):c.606C>T (p.Thr202=) rs754333091 0.00012
NM_001845.6(COL4A1):c.2285T>C (p.Val762Ala) rs374930028 0.00009
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln) rs146288748 0.00009
NM_001845.6(COL4A1):c.2955G>C (p.Gln985His) rs145018661 0.00009
NM_001845.6(COL4A1):c.405C>T (p.Leu135=) rs138888319 0.00009
NM_001845.6(COL4A1):c.4150+3G>A rs545498227 0.00009
NM_001845.6(COL4A1):c.2085C>T (p.Pro695=) rs377505775 0.00007
NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln) rs376607450 0.00007
NM_001845.6(COL4A1):c.4658C>T (p.Ala1553Val) rs201150281 0.00007
NM_001845.6(COL4A1):c.3877-30C>A rs367688295 0.00006
NM_001845.6(COL4A1):c.4608C>T (p.Ile1536=) rs377100994 0.00006
NM_001845.6(COL4A1):c.4045C>T (p.Pro1349Ser) rs761077330 0.00005
NM_001845.6(COL4A1):c.1420G>A (p.Gly474Arg) rs752346924 0.00004
NM_001845.6(COL4A1):c.1754G>A (p.Arg585His) rs754034347 0.00004
NM_001845.6(COL4A1):c.2001C>G (p.Gly667=) rs954535100 0.00004
NM_001845.6(COL4A1):c.342C>T (p.Asp114=) rs757542907 0.00004
NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn) rs141395813 0.00004
NM_001845.6(COL4A1):c.4038T>C (p.Pro1346=) rs372556002 0.00004
NM_001845.6(COL4A1):c.441C>T (p.Pro147=) rs201812821 0.00004
NM_001845.6(COL4A1):c.4640+3G>T rs770167198 0.00004
NM_001845.6(COL4A1):c.1885C>G (p.Pro629Ala) rs769408707 0.00003
NM_001845.6(COL4A1):c.2216C>T (p.Pro739Leu) rs778390847 0.00003
NM_001845.6(COL4A1):c.2448G>A (p.Pro816=) rs144401828 0.00003
NM_001845.6(COL4A1):c.2862A>G (p.Gly954=) rs373590636 0.00003
NM_001845.6(COL4A1):c.3144G>T (p.Glu1048Asp) rs368949397 0.00003
NM_001845.6(COL4A1):c.3431C>G (p.Thr1144Arg) rs769021800 0.00003
NM_001845.6(COL4A1):c.3899T>C (p.Ile1300Thr) rs758276496 0.00003
NM_001845.6(COL4A1):c.4029G>A (p.Pro1343=) rs540983592 0.00003
NM_001845.6(COL4A1):c.430G>A (p.Ala144Thr) rs778175625 0.00003
NM_001845.6(COL4A1):c.1056G>A (p.Pro352=) rs531373470 0.00002
NM_001845.6(COL4A1):c.1495G>A (p.Asp499Asn) rs773778552 0.00002
NM_001845.6(COL4A1):c.1656C>T (p.Pro552=) rs576690537 0.00002
NM_001845.6(COL4A1):c.1729G>C (p.Gly577Arg) rs752009614 0.00002
NM_001845.6(COL4A1):c.1804C>T (p.Pro602Ser) rs769247289 0.00002
NM_001845.6(COL4A1):c.196C>A (p.Gln66Lys) rs751220553 0.00002
NM_001845.6(COL4A1):c.1990+4C>T rs771634502 0.00002
NM_001845.6(COL4A1):c.2244C>T (p.Pro748=) rs755340790 0.00002
NM_001845.6(COL4A1):c.2313G>A (p.Ala771=) rs781701888 0.00002
NM_001845.6(COL4A1):c.2397A>G (p.Pro799=) rs1274572221 0.00002
NM_001845.6(COL4A1):c.3831C>T (p.Pro1277=) rs779198670 0.00002
NM_001845.6(COL4A1):c.1270C>A (p.Gln424Lys) rs199622845 0.00001
NM_001845.6(COL4A1):c.1536+568C>T rs1878631993 0.00001
NM_001845.6(COL4A1):c.2201C>G (p.Pro734Arg) rs527530568 0.00001
NM_001845.6(COL4A1):c.2517G>A (p.Pro839=) rs773443475 0.00001
NM_001845.6(COL4A1):c.2531A>T (p.Asp844Val) rs368902134 0.00001
NM_001845.6(COL4A1):c.2985A>G (p.Pro995=) rs200504781 0.00001
NM_001845.6(COL4A1):c.3178C>G (p.Pro1060Ala) rs886044336 0.00001
NM_001845.6(COL4A1):c.3267C>T (p.Ile1089=) rs1480113512 0.00001
NM_001845.6(COL4A1):c.3341C>T (p.Pro1114Leu) rs369538377 0.00001
NM_001845.6(COL4A1):c.338A>G (p.Gln113Arg) rs779129339 0.00001
NM_001845.6(COL4A1):c.3713G>A (p.Arg1238His) rs146598127 0.00001
NM_001845.6(COL4A1):c.4305G>T (p.Gly1435=) rs376372101 0.00001
NM_001845.6(COL4A1):c.441+1G>A rs1445318211 0.00001
NM_001845.6(COL4A1):c.4796C>T (p.Ala1599Val) rs766472965 0.00001
NM_001845.6(COL4A1):c.4803C>T (p.Pro1601=) rs190097900 0.00001
NM_001845.6(COL4A1):c.4940C>T (p.Pro1647Leu) rs201767532 0.00001
NM_001845.6(COL4A1):c.771G>A (p.Lys257=) rs757482570 0.00001
GRCh37/hg19 13q34(chr13:110822894-110823079)x1
GRCh37/hg19 13q34(chr13:110828771-110831768)x1
NM_001845.6(COL4A1):c.-90G>A rs113651836
NM_001845.6(COL4A1):c.1084+5C>T rs74508743
NM_001845.6(COL4A1):c.1285+32G>T
NM_001845.6(COL4A1):c.143A>C (p.Lys48Thr) rs1594082548
NM_001845.6(COL4A1):c.144+5206C>A
NM_001845.6(COL4A1):c.144+5206C>T
NM_001845.6(COL4A1):c.1536+557T>C
NM_001845.6(COL4A1):c.1550C>T (p.Thr517Ile) rs1269728194
NM_001845.6(COL4A1):c.1560G>A (p.Leu520=) rs767901841
NM_001845.6(COL4A1):c.1562T>C (p.Ile521Thr) rs759936052
NM_001845.6(COL4A1):c.1612C>T (p.Arg538Trp) rs397514624
NM_001845.6(COL4A1):c.1618A>G (p.Lys540Glu) rs1878444055
NM_001845.6(COL4A1):c.1629A>T (p.Lys543Asn)
NM_001845.6(COL4A1):c.1641C>T (p.Gly547=)
NM_001845.6(COL4A1):c.1750G>C (p.Glu584Gln)
NM_001845.6(COL4A1):c.1804C>A (p.Pro602Thr) rs769247289
NM_001845.6(COL4A1):c.181_189delinsAGGTTTCCG (p.Gly61Arg) rs2139207338
NM_001845.6(COL4A1):c.1864_1890dup (p.Gly630_Leu631insPheProGlyGlyProGlySerProGly) rs2139173181
NM_001845.6(COL4A1):c.1875C>T (p.Gly625=)
NM_001845.6(COL4A1):c.1961C>T (p.Pro654Leu)
NM_001845.6(COL4A1):c.1962G>A (p.Pro654=)
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg) rs1878248687
NM_001845.6(COL4A1):c.2022G>C (p.Arg674Ser)
NM_001845.6(COL4A1):c.2027G>A (p.Gly676Asp)
NM_001845.6(COL4A1):c.2070A>G (p.Gly690=)
NM_001845.6(COL4A1):c.2096-8T>A
NM_001845.6(COL4A1):c.2141G>A (p.Gly714Asp) rs1064797179
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) rs672601346
NM_001845.6(COL4A1):c.2282G>T (p.Gly761Val) rs1064795130
NM_001845.6(COL4A1):c.2291G>A (p.Gly764Asp) rs1566353677
NM_001845.6(COL4A1):c.234G>A (p.Lys78=) rs905794416
NM_001845.6(COL4A1):c.2493C>T (p.Pro831=) rs764995559
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg) rs797044867
NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg) rs797045034
NM_001845.6(COL4A1):c.2690G>T (p.Gly897Val)
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg) rs146134172
NM_001845.6(COL4A1):c.2733G>A (p.Pro911=)
NM_001845.6(COL4A1):c.2763C>T (p.Gly921=)
NM_001845.6(COL4A1):c.280-2A>G
NM_001845.6(COL4A1):c.2877T>C (p.Ile959=)
NM_001845.6(COL4A1):c.2959G>A (p.Gly987Arg) rs1566351456
NM_001845.6(COL4A1):c.2978G>C (p.Gly993Ala) rs2139162409
NM_001845.6(COL4A1):c.2T>A (p.Met1Lys) rs1555318328
NM_001845.6(COL4A1):c.3041G>A (p.Gly1014Asp)
NM_001845.6(COL4A1):c.3133G>A (p.Ala1045Thr) rs1057519214
NM_001845.6(COL4A1):c.3142G>A (p.Glu1048Lys) rs1251048055
NM_001845.6(COL4A1):c.3158G>T (p.Gly1053Val)
NM_001845.6(COL4A1):c.3307G>A (p.Gly1103Arg) rs1877796698
NM_001845.6(COL4A1):c.3325+8del
NM_001845.6(COL4A1):c.3326-13dup rs139122216
NM_001845.6(COL4A1):c.3378T>A (p.Asp1126Glu)
NM_001845.6(COL4A1):c.343G>A (p.Gly115Ser)
NM_001845.6(COL4A1):c.3550G>A (p.Asp1184Asn)
NM_001845.6(COL4A1):c.3719C>A (p.Pro1240His)
NM_001845.6(COL4A1):c.3816C>T (p.Gly1272=)
NM_001845.6(COL4A1):c.388G>C (p.Gly130Arg)
NM_001845.6(COL4A1):c.3905G>C (p.Gly1302Ala) rs1877385413
NM_001845.6(COL4A1):c.3932G>A (p.Gly1311Glu) rs1877384330
NM_001845.6(COL4A1):c.3983A>G (p.Lys1328Arg)
NM_001845.6(COL4A1):c.3995G>A (p.Gly1332Asp) rs1877331560
NM_001845.6(COL4A1):c.4006G>A (p.Val1336Ile)
NM_001845.6(COL4A1):c.4058A>G (p.Asp1353Gly)
NM_001845.6(COL4A1):c.4108C>T (p.Leu1370=)
NM_001845.6(COL4A1):c.4213G>A (p.Gly1405Ser) rs1877181545
NM_001845.6(COL4A1):c.4373C>A (p.Pro1458Gln) rs2139146160
NM_001845.6(COL4A1):c.4629A>G (p.Pro1543=)
NM_001845.6(COL4A1):c.4652G>T (p.Cys1551Phe) rs1594530228
NM_001845.6(COL4A1):c.469-7C>A
NM_001845.6(COL4A1):c.4693A>T (p.Ile1565Phe) rs1876733964
NM_001845.6(COL4A1):c.4744T>C (p.Ser1582Pro) rs1594530090
NM_001845.6(COL4A1):c.4797G>A (p.Ala1599=) rs146638269
NM_001845.6(COL4A1):c.4800C>A (p.Ser1600=) rs650724
NM_001845.6(COL4A1):c.4842C>T (p.Ile1614=)
NM_001845.6(COL4A1):c.4875C>T (p.Tyr1625=)
NM_001845.6(COL4A1):c.4946C>G (p.Thr1649Ser)
NM_001845.6(COL4A1):c.589G>T (p.Gly197Trp) rs2139202259
NM_001845.6(COL4A1):c.607G>A (p.Gly203Arg) rs1057519191
NM_001845.6(COL4A1):c.801A>C (p.Gly267=) rs1566374260
NM_001845.6(COL4A1):c.823G>A (p.Gly275Arg)
NM_001845.6(COL4A1):c.840C>T (p.Pro280=)
NM_001845.6(COL4A1):c.992C>T (p.Pro331Leu)

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