ClinVar Miner

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

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Gene type:
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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.2458+2T>C rs1436175370 0.00001
NM_001845.6(COL4A1):c.3187C>T (p.Arg1063Ter) rs1877827904 0.00001
NC_000013.10:g.(?_110839465)_(110855974_?)del
NC_000013.11:g.110212480del
NM_001845.6(COL4A1):c.*32G>T rs1876439052
NM_001845.6(COL4A1):c.-31_74del (p.Met1_Ala25del)
NM_001845.6(COL4A1):c.1493G>A (p.Gly498Asp) rs113994104
NM_001845.6(COL4A1):c.1502G>A (p.Gly501Asp) rs2139179173
NM_001845.6(COL4A1):c.1509del (p.Gly504fs) rs1594566006
NM_001845.6(COL4A1):c.1536del (p.Gly513fs)
NM_001845.6(COL4A1):c.1611dup (p.Arg538fs) rs2139174027
NM_001845.6(COL4A1):c.1627A>T (p.Lys543Ter)
NM_001845.6(COL4A1):c.1630G>A (p.Gly544Arg) rs1131691834
NM_001845.6(COL4A1):c.1801G>A (p.Gly601Ser) rs1064794777
NM_001845.6(COL4A1):c.1870G>T (p.Gly624Ter) rs1188823925
NM_001845.6(COL4A1):c.1889G>A (p.Gly630Asp) rs2139173182
NM_001845.6(COL4A1):c.1890_1897+77del rs2139173063
NM_001845.6(COL4A1):c.1943del (p.Pro648fs)
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg) rs1878248687
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001845.6(COL4A1):c.2119_2120del (p.Met707fs)
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser) rs113994109
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) rs672601346
NM_001845.6(COL4A1):c.2291G>A (p.Gly764Asp) rs1566353677
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.2345-2A>G
NM_001845.6(COL4A1):c.2411del (p.Pro804fs) rs2139165126
NM_001845.6(COL4A1):c.2414G>A (p.Gly805Glu) rs868858094
NM_001845.6(COL4A1):c.2458+1G>A rs1878012979
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg) rs797044867
NM_001845.6(COL4A1):c.2655del (p.Thr886fs) rs2139163985
NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg) rs797045034
NM_001845.6(COL4A1):c.2672G>A (p.Gly891Asp) rs886041965
NM_001845.6(COL4A1):c.2681G>A (p.Gly894Glu)
NM_001845.6(COL4A1):c.2689G>C (p.Gly897Arg)
NM_001845.6(COL4A1):c.2690G>T (p.Gly897Val)
NM_001845.6(COL4A1):c.2696_2697insCGGCCTCACCAGGACCAGTGGGTGCTCC (p.Pro902fs)
NM_001845.6(COL4A1):c.2771G>A (p.Gly924Asp) rs2139163087
NM_001845.6(COL4A1):c.2788G>A (p.Gly930Ser) rs2139163058
NM_001845.6(COL4A1):c.2870G>A (p.Gly957Glu) rs2139162781
NM_001845.6(COL4A1):c.2902C>T (p.Arg968Ter) rs1877904298
NM_001845.6(COL4A1):c.2923G>C (p.Gly975Arg)
NM_001845.6(COL4A1):c.2930del (p.Pro977fs) rs2139162697
NM_001845.6(COL4A1):c.3041G>A (p.Gly1014Asp)
NM_001845.6(COL4A1):c.3158G>T (p.Gly1053Val)
NM_001845.6(COL4A1):c.3199G>A (p.Gly1067Arg)
NM_001845.6(COL4A1):c.3208G>A (p.Gly1070Arg) rs1057523325
NM_001845.6(COL4A1):c.324+1G>A rs1085307816
NM_001845.6(COL4A1):c.3300del (p.Ser1101fs)
NM_001845.6(COL4A1):c.3307G>A (p.Gly1103Arg) rs1877796698
NM_001845.6(COL4A1):c.3406G>T (p.Gly1136Cys)
NM_001845.6(COL4A1):c.3556+1G>T rs1555302645
NM_001845.6(COL4A1):c.3592G>A (p.Gly1198Arg) rs2139156247
NM_001845.6(COL4A1):c.3620G>A (p.Gly1207Glu) rs2139156207
NM_001845.6(COL4A1):c.3655G>T (p.Gly1219Ter) rs2139156141
NM_001845.6(COL4A1):c.3707G>T (p.Gly1236Val)
NM_001845.6(COL4A1):c.3715G>A (p.Gly1239Arg) rs1085307709
NM_001845.6(COL4A1):c.3734G>A (p.Gly1245Asp)
NM_001845.6(COL4A1):c.3742G>A (p.Gly1248Arg)
NM_001845.6(COL4A1):c.3760G>A (p.Gly1254Arg) rs1085307614
NM_001845.6(COL4A1):c.3976G>A (p.Gly1326Arg) rs587777379
NM_001845.6(COL4A1):c.3977G>T (p.Gly1326Val) rs886041714
NM_001845.6(COL4A1):c.4150+1G>A rs2139149159
NM_001845.6(COL4A1):c.4408G>A (p.Gly1470Arg) rs2139146124
NM_001845.6(COL4A1):c.4408G>C (p.Gly1470Arg)
NM_001845.6(COL4A1):c.452G>A (p.Gly151Asp) rs2139204356
NM_001845.6(COL4A1):c.4738G>A (p.Gly1580Ser) rs113994114
NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser) rs878853070
NM_001845.6(COL4A1):c.665T>G (p.Leu222Ter)
NM_001845.6(COL4A1):c.686del (p.Gly229fs)
NM_001845.6(COL4A1):c.897del (p.Ser300fs)

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