ClinVar Miner

List of variants in gene COL4A1 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.922G>A (p.Gly308Arg) rs370677625 0.00003
NM_001845.6(COL4A1):c.1729G>C (p.Gly577Arg) rs752009614 0.00002
NM_001845.6(COL4A1):c.1702G>T (p.Gly568Cys) rs375477517 0.00001
NM_001845.6(COL4A1):c.3832G>A (p.Gly1278Ser) rs757453900 0.00001
NM_001845.6(COL4A1):c.4204G>A (p.Gly1402Ser) rs1179536054 0.00001
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp) rs567124920 0.00001
NM_001845.6(COL4A1):c.904G>A (p.Gly302Ser) rs144795487 0.00001
GRCh37/hg19 13q34(chr13:110828771-110831768)x1
NC_000013.10:g.(?_110850794)_(110859856_?)dup
NM_001845.6(COL4A1):c.1000-2A>G
NM_001845.6(COL4A1):c.1021G>C (p.Gly341Arg)
NM_001845.6(COL4A1):c.1022G>C (p.Gly341Ala)
NM_001845.6(COL4A1):c.1040G>T (p.Gly347Val) rs1566370178
NM_001845.6(COL4A1):c.1052dup (p.Pro352fs) rs1555305682
NM_001845.6(COL4A1):c.1076G>T (p.Gly359Val)
NM_001845.6(COL4A1):c.1084+1G>T
NM_001845.6(COL4A1):c.1085-2A>G rs1555305593
NM_001845.6(COL4A1):c.1103G>A (p.Gly368Asp)
NM_001845.6(COL4A1):c.1111G>A (p.Gly371Arg)
NM_001845.6(COL4A1):c.1144G>A (p.Gly382Ser)
NM_001845.6(COL4A1):c.1145G>A (p.Gly382Asp) rs2139187455
NM_001845.6(COL4A1):c.1257_1258inv (p.Gly420Arg)
NM_001845.6(COL4A1):c.136G>A (p.Gly46Arg)
NM_001845.6(COL4A1):c.1382-2A>G rs758420618
NM_001845.6(COL4A1):c.1438G>A (p.Gly480Arg) rs1461754052
NM_001845.6(COL4A1):c.1457G>A (p.Gly486Glu)
NM_001845.6(COL4A1):c.1466-1G>C
NM_001845.6(COL4A1):c.1547G>A (p.Gly516Asp)
NM_001845.6(COL4A1):c.155G>T (p.Gly52Val) rs2139207389
NM_001845.6(COL4A1):c.1648G>C (p.Gly550Arg) rs2139173980
NM_001845.6(COL4A1):c.1657G>A (p.Gly553Ser)
NM_001845.6(COL4A1):c.1685G>C (p.Gly562Ala)
NM_001845.6(COL4A1):c.1720G>A (p.Gly574Ser)
NM_001845.6(COL4A1):c.1721G>T (p.Gly574Val)
NM_001845.6(COL4A1):c.1730G>T (p.Gly577Val)
NM_001845.6(COL4A1):c.173G>A (p.Gly58Asp)
NM_001845.6(COL4A1):c.1790GTG[1] (p.Gly598del)
NM_001845.6(COL4A1):c.1792G>A (p.Gly598Ser)
NM_001845.6(COL4A1):c.181_189delinsAGGTTTCCG (p.Gly61Arg) rs2139207338
NM_001845.6(COL4A1):c.182G>C (p.Gly61Ala)
NM_001845.6(COL4A1):c.1862G>A (p.Gly621Asp)
NM_001845.6(COL4A1):c.1864_1890dup (p.Gly630_Leu631insPheProGlyGlyProGlySerProGly) rs2139173181
NM_001845.6(COL4A1):c.1945G>A (p.Gly649Arg) rs2139169795
NM_001845.6(COL4A1):c.1952_1954del (p.Glu651del)
NM_001845.6(COL4A1):c.1971_1990+24del rs2139169706
NM_001845.6(COL4A1):c.1991-2A>G rs2139169623
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg) rs1878248687
NM_001845.6(COL4A1):c.2027G>A (p.Gly676Asp)
NM_001845.6(COL4A1):c.2036G>A (p.Gly679Glu) rs2139169535
NM_001845.6(COL4A1):c.2077G>C (p.Gly693Arg)
NM_001845.6(COL4A1):c.2113G>A (p.Gly705Arg)
NM_001845.6(COL4A1):c.217G>A (p.Gly73Arg)
NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val) rs1057523354
NM_001845.6(COL4A1):c.2264G>A (p.Gly755Glu) rs1878041974
NM_001845.6(COL4A1):c.227G>C (p.Gly76Ala) rs775754972
NM_001845.6(COL4A1):c.2282G>T (p.Gly761Val) rs1064795130
NM_001845.6(COL4A1):c.2327G>T (p.Gly776Val) rs2139165521
NM_001845.6(COL4A1):c.2372G>C (p.Gly791Ala)
NM_001845.6(COL4A1):c.2413G>A (p.Gly805Arg)
NM_001845.6(COL4A1):c.2449G>A (p.Gly817Arg)
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg) rs797044867
NM_001845.6(COL4A1):c.2539_2547del (p.Ala847_Gly849del)
NM_001845.6(COL4A1):c.2581G>C (p.Gly861Arg)
NM_001845.6(COL4A1):c.2591G>A (p.Gly864Glu) rs1877963897
NM_001845.6(COL4A1):c.2627-1G>A rs1064796811
NM_001845.6(COL4A1):c.2636G>A (p.Gly879Glu) rs2139164015
NM_001845.6(COL4A1):c.2636G>C (p.Gly879Ala) rs2139164015
NM_001845.6(COL4A1):c.2690G>A (p.Gly897Asp)
NM_001845.6(COL4A1):c.2717-1G>A
NM_001845.6(COL4A1):c.2776A>T (p.Lys926Ter)
NM_001845.6(COL4A1):c.2797G>C (p.Gly933Arg)
NM_001845.6(COL4A1):c.280-2A>G
NM_001845.6(COL4A1):c.2861G>C (p.Gly954Ala) rs2139162968
NM_001845.6(COL4A1):c.2878G>A (p.Gly960Arg) rs2139162773
NM_001845.6(COL4A1):c.2959G>A (p.Gly987Arg) rs1566351456
NM_001845.6(COL4A1):c.2968+1G>A
NM_001845.6(COL4A1):c.2969G>T (p.Gly990Val) rs1594550371
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.3004G>A (p.Gly1002Ser)
NM_001845.6(COL4A1):c.3103G>A (p.Gly1035Ser)
NM_001845.6(COL4A1):c.3235G>A (p.Gly1079Arg) rs2139160417
NM_001845.6(COL4A1):c.3236G>A (p.Gly1079Glu) rs1566349968
NM_001845.6(COL4A1):c.3244G>A (p.Gly1082Arg)
NM_001845.6(COL4A1):c.3262G>A (p.Gly1088Arg)
NM_001845.6(COL4A1):c.3307G>A (p.Gly1103Arg) rs1877796698
NM_001845.6(COL4A1):c.3371G>A (p.Gly1124Glu) rs1085307568
NM_001845.6(COL4A1):c.3379G>A (p.Gly1127Ser)
NM_001845.6(COL4A1):c.3415G>A (p.Gly1139Arg)
NM_001845.6(COL4A1):c.343G>A (p.Gly115Ser)
NM_001845.6(COL4A1):c.343G>C (p.Gly115Arg)
NM_001845.6(COL4A1):c.3443G>T (p.Gly1148Val)
NM_001845.6(COL4A1):c.3461G>A (p.Gly1154Asp) rs2139159547
NM_001845.6(COL4A1):c.3480del (p.Ser1161fs)
NM_001845.6(COL4A1):c.3497G>A (p.Gly1166Asp)
NM_001845.6(COL4A1):c.3497G>T (p.Gly1166Val) rs1085307982
NM_001845.6(COL4A1):c.3574G>A (p.Gly1192Ser)
NM_001845.6(COL4A1):c.3574G>C (p.Gly1192Arg) rs2139156269
NM_001845.6(COL4A1):c.3584G>C (p.Gly1195Ala) rs2139156261
NM_001845.6(COL4A1):c.3601G>C (p.Gly1201Arg)
NM_001845.6(COL4A1):c.3611G>A (p.Gly1204Glu) rs1085307907
NM_001845.6(COL4A1):c.3638G>A (p.Gly1213Asp) rs2139156180
NM_001845.6(COL4A1):c.3655G>C (p.Gly1219Arg) rs2139156141
NM_001845.6(COL4A1):c.3683G>T (p.Gly1228Val) rs1555302449
NM_001845.6(COL4A1):c.3698G>A (p.Gly1233Glu) rs1348341976
NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg) rs113994112
NM_001845.6(COL4A1):c.3742+1G>C
NM_001845.6(COL4A1):c.3742+1G>T
NM_001845.6(COL4A1):c.3743G>A (p.Gly1248Glu) rs2139154591
NM_001845.6(COL4A1):c.3760G>A (p.Gly1254Arg) rs1085307614
NM_001845.6(COL4A1):c.3796G>C (p.Gly1266Arg)
NM_001845.6(COL4A1):c.3797G>A (p.Gly1266Asp) rs1057518100
NM_001845.6(COL4A1):c.3806G>A (p.Gly1269Glu) rs2139154502
NM_001845.6(COL4A1):c.3850G>A (p.Gly1284Arg) rs2139154447
NM_001845.6(COL4A1):c.388-1G>C rs766209938
NM_001845.6(COL4A1):c.3886G>A (p.Gly1296Ser)
NM_001845.6(COL4A1):c.388G>T (p.Gly130Trp)
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.3958G>A (p.Gly1320Ser)
NM_001845.6(COL4A1):c.3989ATCAAGGCG[1] (p.1330DQG[1])
NM_001845.6(COL4A1):c.3995G>A (p.Gly1332Asp) rs1877331560
NM_001845.6(COL4A1):c.4021+2T>C
NM_001845.6(COL4A1):c.4046del (p.Pro1349fs)
NM_001845.6(COL4A1):c.4151G>A (p.Gly1384Asp) rs1877185960
NM_001845.6(COL4A1):c.4250-1G>A rs2139146298
NM_001845.6(COL4A1):c.442-1G>C
NM_001845.6(COL4A1):c.4454A>G (p.Gln1485Arg)
NM_001845.6(COL4A1):c.4583C>T (p.Pro1528Leu) rs1085307967
NM_001845.6(COL4A1):c.4652G>A (p.Cys1551Tyr)
NM_001845.6(COL4A1):c.4755+1G>T rs1332002484
NM_001845.6(COL4A1):c.4934del (p.Pro1645fs)
NM_001845.6(COL4A1):c.536G>C (p.Gly179Ala)
NM_001845.6(COL4A1):c.554G>A (p.Gly185Asp) rs1566376798
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.634G>C (p.Gly212Arg)
NM_001845.6(COL4A1):c.791G>A (p.Gly264Asp)
NM_001845.6(COL4A1):c.823G>A (p.Gly275Arg)
NM_001845.6(COL4A1):c.85-2A>T
NM_001845.6(COL4A1):c.868G>A (p.Gly290Arg)
NM_001845.6(COL4A1):c.896G>T (p.Gly299Val)
NM_001845.6(COL4A1):c.903+1G>A
NM_001845.6(COL4A1):c.943C>T (p.Arg315Cys) rs1057517719

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