ClinVar Miner

List of variants in gene COL4A1 reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.1121-18G>A rs139885514 0.00644
NM_001845.6(COL4A1):c.3949+10C>T rs188122235 0.00488
NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=) rs115834242 0.00215
NM_001845.6(COL4A1):c.3506-7C>G rs377592935 0.00105
NM_001845.6(COL4A1):c.2392G>C (p.Val798Leu) rs146950993 0.00076
NM_001845.6(COL4A1):c.957+7G>A rs58908343 0.00057
NM_001845.6(COL4A1):c.690C>T (p.Asp230=) rs149688210 0.00049
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989 0.00048
NM_001845.6(COL4A1):c.1084+19T>C rs542492789 0.00039
NM_001845.6(COL4A1):c.3774T>C (p.Leu1258=) rs139578640 0.00034
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) rs145172612 0.00031
NM_001845.6(COL4A1):c.387+14C>T rs190238481 0.00030
NM_001845.6(COL4A1):c.477A>T (p.Pro159=) rs141067230 0.00029
NM_001845.6(COL4A1):c.831A>G (p.Lys277=) rs140978802 0.00024
NM_001845.6(COL4A1):c.781-12G>A rs202198648 0.00022
NM_001845.6(COL4A1):c.2093A>G (p.Lys698Arg) rs375318302 0.00021
NM_001845.6(COL4A1):c.4250-12C>T rs202055679 0.00020
NM_001845.6(COL4A1):c.*137G>A rs886049956 0.00019
NM_001845.6(COL4A1):c.4756-22_4756-5dup rs778511113 0.00017
NM_001845.6(COL4A1):c.958-4del rs773018457 0.00017
NM_001845.6(COL4A1):c.3750G>A (p.Pro1250=) rs372343245 0.00016
NM_001845.6(COL4A1):c.4463-15T>C rs573385917 0.00016
NM_001845.6(COL4A1):c.807+3C>T rs192723236 0.00015
NM_001845.6(COL4A1):c.1454C>T (p.Pro485Leu) rs142177702 0.00014
NM_001845.6(COL4A1):c.4151-20T>C rs112561721 0.00014
NM_001845.6(COL4A1):c.4845G>A (p.Glu1615=) rs142326550 0.00014
NM_001845.6(COL4A1):c.1419C>T (p.Asp473=) rs140440365 0.00012
NM_001845.6(COL4A1):c.606C>T (p.Thr202=) rs754333091 0.00012
NM_001845.6(COL4A1):c.1881A>G (p.Gly627=) rs202093478 0.00011
NM_001845.6(COL4A1):c.280-11C>T rs377299204 0.00009
NM_001845.6(COL4A1):c.3742+14dup rs761797795 0.00009
NM_001845.6(COL4A1):c.405C>T (p.Leu135=) rs138888319 0.00009
NM_001845.6(COL4A1):c.3714C>T (p.Arg1238=) rs377765047 0.00008
NM_001845.6(COL4A1):c.502G>A (p.Gly168Arg) rs144171664 0.00008
NM_001845.6(COL4A1):c.4449T>C (p.His1483=) rs777962282 0.00007
NM_001845.6(COL4A1):c.4716C>T (p.Ser1572=) rs200290773 0.00007
NM_001845.6(COL4A1):c.1427G>A (p.Arg476Gln) rs376673751 0.00006
NM_001845.6(COL4A1):c.1929T>C (p.Pro643=) rs142883141 0.00006
NM_001845.6(COL4A1):c.324+20T>C rs764072918 0.00006
NM_001845.6(COL4A1):c.3615C>G (p.Ser1205=) rs145903540 0.00006
NM_001845.6(COL4A1):c.4608C>T (p.Ile1536=) rs377100994 0.00006
NM_001845.6(COL4A1):c.2716+16A>G rs767749066 0.00005
NM_001845.6(COL4A1):c.1402C>T (p.Leu468Phe) rs757163211 0.00004
NM_001845.6(COL4A1):c.1754G>A (p.Arg585His) rs754034347 0.00004
NM_001845.6(COL4A1):c.2704C>T (p.Pro902Ser) rs779350720 0.00004
NM_001845.6(COL4A1):c.3216G>A (p.Ala1072=) rs188620231 0.00004
NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn) rs141395813 0.00004
NM_001845.6(COL4A1):c.441C>T (p.Pro147=) rs201812821 0.00004
NM_001845.6(COL4A1):c.858+4A>T rs916106593 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.3144G>T (p.Glu1048Asp) rs368949397 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.4929-9G>A rs756038842 0.00003
NM_001845.6(COL4A1):c.1453C>G (p.Pro485Ala) rs747214508 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.1847A>G (p.Asp616Gly) rs756221734 0.00002
NM_001845.6(COL4A1):c.196C>A (p.Gln66Lys) rs751220553 0.00002
NM_001845.6(COL4A1):c.2244C>T (p.Pro748=) rs755340790 0.00002
NM_001845.6(COL4A1):c.3097C>T (p.Pro1033Ser) rs373131870 0.00002
NM_001845.6(COL4A1):c.3831C>T (p.Pro1277=) rs779198670 0.00002
NM_001845.6(COL4A1):c.4929-10C>T rs369534245 0.00002
NM_001845.6(COL4A1):c.1091C>T (p.Pro364Leu) rs755483519 0.00001
NM_001845.6(COL4A1):c.1461A>G (p.Glu487=) rs1878700909 0.00001
NM_001845.6(COL4A1):c.1672G>A (p.Ala558Thr) rs1878441079 0.00001
NM_001845.6(COL4A1):c.1702G>T (p.Gly568Cys) rs375477517 0.00001
NM_001845.6(COL4A1):c.2080C>T (p.Pro694Ser) rs760462654 0.00001
NM_001845.6(COL4A1):c.2201C>G (p.Pro734Arg) rs527530568 0.00001
NM_001845.6(COL4A1):c.2314A>T (p.Ile772Phe) rs755499333 0.00001
NM_001845.6(COL4A1):c.234+7A>G rs1339538900 0.00001
NM_001845.6(COL4A1):c.2659C>T (p.Pro887Ser) rs1055161168 0.00001
NM_001845.6(COL4A1):c.3161C>T (p.Pro1054Leu) rs758076661 0.00001
NM_001845.6(COL4A1):c.3187C>T (p.Arg1063Ter) rs1877827904 0.00001
NM_001845.6(COL4A1):c.3188G>A (p.Arg1063Gln) rs755532903 0.00001
NM_001845.6(COL4A1):c.3223C>T (p.Pro1075Ser) rs780691085 0.00001
NM_001845.6(COL4A1):c.324+16G>A rs770236988 0.00001
NM_001845.6(COL4A1):c.3274A>G (p.Met1092Val) rs757670001 0.00001
NM_001845.6(COL4A1):c.3492G>A (p.Glu1164=) rs182418518 0.00001
NM_001845.6(COL4A1):c.3713G>A (p.Arg1238His) rs146598127 0.00001
NM_001845.6(COL4A1):c.4166T>C (p.Val1389Ala) rs1357289362 0.00001
NM_001845.6(COL4A1):c.4249+9C>T rs186028417 0.00001
NM_001845.6(COL4A1):c.4462+3A>G rs201116557 0.00001
NM_001845.6(COL4A1):c.4462+8G>A rs752734207 0.00001
NM_001845.6(COL4A1):c.4560G>A (p.Ser1520=) rs773639086 0.00001
NM_001845.6(COL4A1):c.4728G>A (p.Ser1576=) rs552846696 0.00001
NM_001845.6(COL4A1):c.4856G>A (p.Arg1619His) rs747250117 0.00001
NM_001845.6(COL4A1):c.4967G>A (p.Arg1656His) rs756403856 0.00001
NM_001845.6(COL4A1):c.4971G>A (p.Thr1657=) rs139917163 0.00001
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp) rs567124920 0.00001
NM_001845.6(COL4A1):c.808-13T>G rs529629733 0.00001
NM_001845.6(COL4A1):c.900T>A (p.Ser300Arg) rs370338256 0.00001
NM_001845.6(COL4A1):c.1084+20C>T rs756740376
NM_001845.6(COL4A1):c.1612C>T (p.Arg538Trp) rs397514624
NM_001845.6(COL4A1):c.2144G>A (p.Arg715His) rs199573161
NM_001845.6(COL4A1):c.2183A>G (p.Gln728Arg) rs1878139161
NM_001845.6(COL4A1):c.2277C>A (p.Ser759Arg) rs764059421
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.2532T>C (p.Asp844=) rs2139164290
NM_001845.6(COL4A1):c.2594A>G (p.Gln865Arg) rs776874008
NM_001845.6(COL4A1):c.2705C>T (p.Pro902Leu) rs146134172
NM_001845.6(COL4A1):c.3198+9C>A rs112120233
NM_001845.6(COL4A1):c.3306C>T (p.Pro1102=) rs752732736
NM_001845.6(COL4A1):c.3326-13dup rs139122216
NM_001845.6(COL4A1):c.3358A>G (p.Lys1120Glu) rs1566349683
NM_001845.6(COL4A1):c.3972C>T (p.Leu1324=) rs535848796
NM_001845.6(COL4A1):c.4770T>G (p.Gly1590=) rs1339688171
NM_001845.6(COL4A1):c.4966C>T (p.Arg1656Cys) rs377350886
NM_001845.6(COL4A1):c.5000GAA[1] (p.Arg1668del) rs1294802953
NM_001845.6(COL4A1):c.958-10T>C rs766495795

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