ClinVar Miner

List of variants in gene COL4A1 reported as likely benign for autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_001845.5(COL4A1):c.*1404T>C rs56406633 0.02412
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.-103G>A rs538721412 0.00227
NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=) rs115834242 0.00215
NM_001845.6(COL4A1):c.651+4_651+5insCAC rs760194800 0.00087
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.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.329T>C (p.Ile110Thr) rs138269346 0.00021
NM_001845.6(COL4A1):c.4250-12C>T rs202055679 0.00020
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.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.2968+12A>G rs752476229 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.2285T>C (p.Val762Ala) rs374930028 0.00009
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.4441C>T (p.Arg1481Trp) rs199586038 0.00008
NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln) rs376607450 0.00007
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.1858G>C (p.Ala620Pro) rs372803920 0.00006
NM_001845.6(COL4A1):c.1929T>C (p.Pro643=) rs142883141 0.00006
NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu) rs375787099 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.1110C>T (p.Pro370=) rs368143409 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.3743-15C>T rs375583789 0.00004
NM_001845.6(COL4A1):c.2448G>A (p.Pro816=) rs144401828 0.00003
NM_001845.6(COL4A1):c.4929-9G>A rs756038842 0.00003
NM_001845.6(COL4A1):c.994G>C (p.Gly332Arg) rs150182714 0.00003
NM_001845.6(COL4A1):c.1656C>T (p.Pro552=) rs576690537 0.00002
NM_001845.6(COL4A1):c.2244C>T (p.Pro748=) rs755340790 0.00002
NM_001845.6(COL4A1):c.2571G>A (p.Ser857=) rs376513801 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.145-5T>C rs749251030 0.00001
NM_001845.6(COL4A1):c.1461A>G (p.Glu487=) rs1878700909 0.00001
NM_001845.6(COL4A1):c.234+7A>G rs1339538900 0.00001
NM_001845.6(COL4A1):c.2985A>G (p.Pro995=) rs200504781 0.00001
NM_001845.6(COL4A1):c.3054G>A (p.Leu1018=) rs149543327 0.00001
NM_001845.6(COL4A1):c.324+16G>A rs770236988 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.4249+9C>T rs186028417 0.00001
NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu) rs760889798 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.4971G>A (p.Thr1657=) rs139917163 0.00001
NM_001845.6(COL4A1):c.808-13T>G rs529629733 0.00001
NM_001845.6(COL4A1):c.1084+20C>T rs756740376
NM_001845.6(COL4A1):c.1838C>G (p.Pro613Arg) rs146091004
NM_001845.6(COL4A1):c.2144G>A (p.Arg715His) rs199573161
NM_001845.6(COL4A1):c.2532T>C (p.Asp844=) rs2139164290
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.3972C>T (p.Leu1324=) rs535848796
NM_001845.6(COL4A1):c.4770T>G (p.Gly1590=) rs1339688171
NM_001845.6(COL4A1):c.958-10T>C rs766495795

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