ClinVar Miner

List of variants in gene COL4A4 studied for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 252
Download table as spreadsheet
HGVS dbSNP
NC_000002.12:g.227164206G>A
NC_000002.12:g.227164546C>T
NM_000092.4(COL4A4):c.*1073del rs149522920
NM_000092.4(COL4A4):c.*1112G>A rs886055717
NM_000092.4(COL4A4):c.*1242C>T rs886055716
NM_000092.4(COL4A4):c.*128G>A rs886055722
NM_000092.4(COL4A4):c.*1346T>C rs55869005
NM_000092.4(COL4A4):c.*1349A>C rs886055715
NM_000092.4(COL4A4):c.*1423T>C rs886055714
NM_000092.4(COL4A4):c.*1687T>G rs538453112
NM_000092.4(COL4A4):c.*1802T>A rs886055713
NM_000092.4(COL4A4):c.*1914A>T rs886055712
NM_000092.4(COL4A4):c.*2033G>A rs886055711
NM_000092.4(COL4A4):c.*2069T>C rs886055710
NM_000092.4(COL4A4):c.*2119_*2120dup rs56983325
NM_000092.4(COL4A4):c.*2120del rs56983325
NM_000092.4(COL4A4):c.*2120dup rs56983325
NM_000092.4(COL4A4):c.*2259G>A rs886055708
NM_000092.4(COL4A4):c.*22C>A rs562265530
NM_000092.4(COL4A4):c.*2311C>T rs77079951
NM_000092.4(COL4A4):c.*244C>T rs56196639
NM_000092.4(COL4A4):c.*2945T>C rs886055707
NM_000092.4(COL4A4):c.*3159C>A rs559222889
NM_000092.4(COL4A4):c.*3187G>A rs56324594
NM_000092.4(COL4A4):c.*321A>G rs886055721
NM_000092.4(COL4A4):c.*3269A>G rs185029960
NM_000092.4(COL4A4):c.*3299A>G rs886055706
NM_000092.4(COL4A4):c.*3410_*3411del rs528949461
NM_000092.4(COL4A4):c.*3461A>G rs886055705
NM_000092.4(COL4A4):c.*3467C>G rs752632630
NM_000092.4(COL4A4):c.*3636C>T rs147995299
NM_000092.4(COL4A4):c.*3639T>C rs193239835
NM_000092.4(COL4A4):c.*3690A>G rs149243282
NM_000092.4(COL4A4):c.*3712T>G rs535103151
NM_000092.4(COL4A4):c.*3876G>A rs184473858
NM_000092.4(COL4A4):c.*3938A>G rs192161029
NM_000092.4(COL4A4):c.*3940T>C rs886055704
NM_000092.4(COL4A4):c.*3948C>T rs886055703
NM_000092.4(COL4A4):c.*4004_*4005del rs532937469
NM_000092.4(COL4A4):c.*4102dup rs370056635
NM_000092.4(COL4A4):c.*4106C>A rs886055702
NM_000092.4(COL4A4):c.*4135A>T rs886055701
NM_000092.4(COL4A4):c.*4164C>T rs147109071
NM_000092.4(COL4A4):c.*4173A>T rs529259159
NM_000092.4(COL4A4):c.*4322C>T rs1054413
NM_000092.4(COL4A4):c.*4369C>T rs886055700
NM_000092.4(COL4A4):c.*4385A>G rs574071910
NM_000092.4(COL4A4):c.*4393G>T rs886055699
NM_000092.4(COL4A4):c.*4491_*4494dup rs151077907
NM_000092.4(COL4A4):c.*4534T>C rs767613572
NM_000092.4(COL4A4):c.*4583A>G rs886055698
NM_000092.4(COL4A4):c.*4602C>G rs1054415
NM_000092.4(COL4A4):c.*472A>T rs77268230
NM_000092.4(COL4A4):c.*48G>A rs767600758
NM_000092.4(COL4A4):c.*566del rs11314253
NM_000092.4(COL4A4):c.*569C>A rs772402371
NM_000092.4(COL4A4):c.*581G>A rs79659665
NM_000092.4(COL4A4):c.*755T>C rs191394048
NM_000092.4(COL4A4):c.*774dup rs59918285
NM_000092.4(COL4A4):c.*833C>T rs886055720
NM_000092.4(COL4A4):c.*841G>A rs11556632
NM_000092.4(COL4A4):c.*857G>A rs80142712
NM_000092.4(COL4A4):c.*863C>G rs886055719
NM_000092.4(COL4A4):c.*864C>G rs886055718
NM_000092.4(COL4A4):c.-101-4A>G rs147186690
NM_000092.4(COL4A4):c.-102+10C>G rs867845285
NM_000092.4(COL4A4):c.-134C>G rs530247030
NM_000092.4(COL4A4):c.-15T>C rs17353916
NM_000092.4(COL4A4):c.-177G>A rs886055730
NM_000092.4(COL4A4):c.-341G>A rs886055731
NM_000092.4(COL4A4):c.-408G>A rs554839865
NM_000092.4(COL4A4):c.-527G>A rs886055732
NM_000092.4(COL4A4):c.-555G>A rs79908084
NM_000092.4(COL4A4):c.-79C>T rs55836847
NM_000092.4(COL4A4):c.102A>G (p.Gln34=) rs3817617
NM_000092.4(COL4A4):c.1205-9A>G rs370706928
NM_000092.4(COL4A4):c.1353C>T (p.Gly451=) rs199511948
NM_000092.4(COL4A4):c.1435G>C (p.Gly479Arg) rs202210475
NM_000092.4(COL4A4):c.1767T>A (p.Asp589Glu) rs886055727
NM_000092.4(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949
NM_000092.4(COL4A4):c.1833T>C (p.Gly611=) rs145806603
NM_000092.4(COL4A4):c.1893A>G (p.Gly631=) rs370886041
NM_000092.4(COL4A4):c.193-9C>G rs190570269
NM_000092.4(COL4A4):c.195T>C (p.Gly65=) rs201278620
NM_000092.4(COL4A4):c.1963C>T (p.Pro655Ser) rs886055726
NM_000092.4(COL4A4):c.198A>G (p.Pro66=) rs147947155
NM_000092.4(COL4A4):c.2008G>A (p.Val670Ile) rs34236495
NM_000092.4(COL4A4):c.2045A>G (p.Asp682Gly) rs142093416
NM_000092.4(COL4A4):c.2079C>T (p.Pro693=) rs200010601
NM_000092.4(COL4A4):c.2159C>T (p.Pro720Leu) rs749186337
NM_000092.4(COL4A4):c.2165-15T>G rs60344965
NM_000092.4(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515
NM_000092.4(COL4A4):c.2335C>G (p.Pro779Ala) rs886055725
NM_000092.4(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.4(COL4A4):c.2378C>T (p.Ala793Val) rs377676207
NM_000092.4(COL4A4):c.2399C>G (p.Pro800Arg) rs200714000
NM_000092.4(COL4A4):c.2430C>G (p.Gly810=) rs769363556
NM_000092.4(COL4A4):c.2439A>T (p.Gly813=) rs34835657
NM_000092.4(COL4A4):c.2516C>T (p.Pro839Leu) rs199562472
NM_000092.4(COL4A4):c.2586T>C (p.Pro862=) rs761238651
NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437
NM_000092.4(COL4A4):c.2717-15C>A rs143886681
NM_000092.4(COL4A4):c.2717-5A>T rs1800519
NM_000092.4(COL4A4):c.2791G>A (p.Ala931Thr) rs75875272
NM_000092.4(COL4A4):c.2796G>A (p.Lys932=) rs34591179
NM_000092.4(COL4A4):c.2877C>T (p.Pro959=) rs79470996
NM_000092.4(COL4A4):c.2907A>C (p.Ser969=) rs116354015
NM_000092.4(COL4A4):c.2985C>T (p.Pro995=) rs79261248
NM_000092.4(COL4A4):c.3486A>G (p.Pro1162=) rs2229815
NM_000092.4(COL4A4):c.3577+14C>T rs370328730
NM_000092.4(COL4A4):c.3770C>T (p.Pro1257Leu) rs755884665
NM_000092.4(COL4A4):c.4041A>G (p.Leu1347=) rs16823077
NM_000092.4(COL4A4):c.4082-8C>T rs139571413
NM_000092.4(COL4A4):c.4090+14T>C rs147376687
NM_000092.4(COL4A4):c.4195A>T (p.Met1399Leu) rs149117087
NM_000092.4(COL4A4):c.4217-15T>C rs200926310
NM_000092.4(COL4A4):c.4349T>C (p.Ile1450Thr) rs72969704
NM_000092.4(COL4A4):c.436G>A (p.Gly146Ser) rs886055729
NM_000092.4(COL4A4):c.4421C>T (p.Thr1474Met) rs201615111
NM_000092.4(COL4A4):c.4678C>T (p.Arg1560Cys) rs200973262
NM_000092.4(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549
NM_000092.4(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863
NM_000092.4(COL4A4):c.4725G>A (p.Ala1575=) rs886055724
NM_000092.4(COL4A4):c.4731G>A (p.Ala1577=) rs200639109
NM_000092.4(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000092.4(COL4A4):c.4857T>C (p.Pro1619=) rs184776061
NM_000092.4(COL4A4):c.4862G>A (p.Ser1621Asn) rs886055723
NM_000092.4(COL4A4):c.4962G>A (p.Thr1654=) rs375911030
NM_000092.4(COL4A4):c.4982T>A (p.Phe1661Tyr) rs374119389
NM_000092.4(COL4A4):c.5016A>G (p.Glu1672=) rs34761049
NM_000092.4(COL4A4):c.50A>G (p.Lys17Arg) rs114969026
NM_000092.4(COL4A4):c.541G>T (p.Ala181Ser) rs200707549
NM_000092.4(COL4A4):c.666G>A (p.Pro222=) rs111945121
NM_000092.4(COL4A4):c.680G>A (p.Arg227His) rs368248078
NM_000092.4(COL4A4):c.736-10T>G rs201175819
NM_000092.4(COL4A4):c.816+12A>T rs886055728
NM_000092.4(COL4A4):c.928C>T (p.Arg310Trp) rs200817090
NM_000092.5(COL4A4):c.*1026G>A
NM_000092.5(COL4A4):c.*1064G>C
NM_000092.5(COL4A4):c.*1171C>T
NM_000092.5(COL4A4):c.*1173T>C
NM_000092.5(COL4A4):c.*1190G>A
NM_000092.5(COL4A4):c.*1292A>T
NM_000092.5(COL4A4):c.*1397A>G
NM_000092.5(COL4A4):c.*1464A>T
NM_000092.5(COL4A4):c.*1465T>A
NM_000092.5(COL4A4):c.*1930T>C
NM_000092.5(COL4A4):c.*1960C>A
NM_000092.5(COL4A4):c.*2021A>G
NM_000092.5(COL4A4):c.*222C>G
NM_000092.5(COL4A4):c.*2239T>C
NM_000092.5(COL4A4):c.*2259G>C
NM_000092.5(COL4A4):c.*2422T>C
NM_000092.5(COL4A4):c.*244C>A
NM_000092.5(COL4A4):c.*2487C>A
NM_000092.5(COL4A4):c.*2647C>T
NM_000092.5(COL4A4):c.*2677T>G
NM_000092.5(COL4A4):c.*2732C>T
NM_000092.5(COL4A4):c.*2807T>G
NM_000092.5(COL4A4):c.*2849G>A
NM_000092.5(COL4A4):c.*2855C>T
NM_000092.5(COL4A4):c.*2962A>G
NM_000092.5(COL4A4):c.*3156A>G
NM_000092.5(COL4A4):c.*318T>G
NM_000092.5(COL4A4):c.*3354C>A
NM_000092.5(COL4A4):c.*3397T>C
NM_000092.5(COL4A4):c.*345T>A
NM_000092.5(COL4A4):c.*3791A>C
NM_000092.5(COL4A4):c.*4041A>G
NM_000092.5(COL4A4):c.*4194C>T
NM_000092.5(COL4A4):c.*4347C>T
NM_000092.5(COL4A4):c.*4363G>C
NM_000092.5(COL4A4):c.*4498T>C
NM_000092.5(COL4A4):c.*4545A>G
NM_000092.5(COL4A4):c.*4599T>C
NM_000092.5(COL4A4):c.*491A>G
NM_000092.5(COL4A4):c.*705T>C
NM_000092.5(COL4A4):c.*718G>C
NM_000092.5(COL4A4):c.*747T>C
NM_000092.5(COL4A4):c.*859A>C
NM_000092.5(COL4A4):c.*883C>G
NM_000092.5(COL4A4):c.*888G>A
NM_000092.5(COL4A4):c.*888G>T
NM_000092.5(COL4A4):c.*931C>T
NM_000092.5(COL4A4):c.-102+8G>T
NM_000092.5(COL4A4):c.-2C>T rs2228558
NM_000092.5(COL4A4):c.1202C>T (p.Ala401Val) rs199581317
NM_000092.5(COL4A4):c.1323T>C (p.Pro441=) rs35830639
NM_000092.5(COL4A4):c.1369+15A>C
NM_000092.5(COL4A4):c.1444C>T (p.Pro482Ser) rs2229814
NM_000092.5(COL4A4):c.1522C>T (p.Pro508Ser)
NM_000092.5(COL4A4):c.15C>T (p.His5=)
NM_000092.5(COL4A4):c.1630C>T (p.His544Tyr) rs745815071
NM_000092.5(COL4A4):c.1634G>C (p.Gly545Ala) rs1800516
NM_000092.5(COL4A4):c.1664C>T (p.Ala555Val)
NM_000092.5(COL4A4):c.1719T>C (p.Pro573=) rs533957132
NM_000092.5(COL4A4):c.17T>C (p.Ile6Thr) rs16823264
NM_000092.5(COL4A4):c.1821G>A (p.Ala607=) rs114684841
NM_000092.5(COL4A4):c.1914A>G (p.Pro638=)
NM_000092.5(COL4A4):c.1988-3C>T
NM_000092.5(COL4A4):c.2007C>T (p.Asn669=) rs754769010
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) rs76636743
NM_000092.5(COL4A4):c.2165-13del rs140965334
NM_000092.5(COL4A4):c.228T>G (p.Ile76Met)
NM_000092.5(COL4A4):c.2384-5T>C rs3769641
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser)
NM_000092.5(COL4A4):c.2860+13C>T
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659
NM_000092.5(COL4A4):c.3011C>T (p.Pro1004Leu) rs1800517
NM_000092.5(COL4A4):c.3108T>C (p.Gly1036=) rs201962241
NM_000092.5(COL4A4):c.3150+14G>T
NM_000092.5(COL4A4):c.3233C>T (p.Ala1078Val) rs79143859
NM_000092.5(COL4A4):c.3374C>T (p.Ser1125Phe)
NM_000092.5(COL4A4):c.3513C>T (p.Ser1171=)
NM_000092.5(COL4A4):c.354A>G (p.Pro118=)
NM_000092.5(COL4A4):c.3594G>A (p.Gly1198=) rs10203363
NM_000092.5(COL4A4):c.3622C>G (p.Leu1208Val)
NM_000092.5(COL4A4):c.3654A>G (p.Pro1218=) rs369708146
NM_000092.5(COL4A4):c.3684G>A (p.Lys1228=) rs2229812
NM_000092.5(COL4A4):c.3706+13A>G
NM_000092.5(COL4A4):c.3817+9G>C rs13423714
NM_000092.5(COL4A4):c.3871C>G (p.Pro1291Ala) rs34728338
NM_000092.5(COL4A4):c.3974-14T>C
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu) rs201578201
NM_000092.5(COL4A4):c.4080G>A (p.Pro1360=) rs2228556
NM_000092.5(COL4A4):c.4081+9C>G
NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=) rs75398993
NM_000092.5(COL4A4):c.4207T>C (p.Ser1403Pro) rs3752895
NM_000092.5(COL4A4):c.4216+11C>T
NM_000092.5(COL4A4):c.4247G>A (p.Arg1416Lys)
NM_000092.5(COL4A4):c.4291C>T (p.Arg1431Cys)
NM_000092.5(COL4A4):c.4523-8T>C rs13419076
NM_000092.5(COL4A4):c.4548A>G (p.Val1516=) rs2228555
NM_000092.5(COL4A4):c.4594C>A (p.His1532Asn)
NM_000092.5(COL4A4):c.4656G>A (p.Met1552Ile) rs77104306
NM_000092.5(COL4A4):c.4779G>A (p.Arg1593=) rs751561029
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr)
NM_000092.5(COL4A4):c.4932C>T (p.Phe1644=) rs2228557
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly)
NM_000092.5(COL4A4):c.4947C>T (p.Ser1649=) rs918428666
NM_000092.5(COL4A4):c.507G>C (p.Lys169Asn) rs545808060
NM_000092.5(COL4A4):c.620C>T (p.Ala207Val)
NM_000092.5(COL4A4):c.645G>A (p.Glu215=)
NM_000092.5(COL4A4):c.661C>T (p.Pro221Ser)
NM_000092.5(COL4A4):c.778G>A (p.Val260Ile)
NM_000092.5(COL4A4):c.817-6T>G
NM_000092.5(COL4A4):c.843T>C (p.Val281=)
NM_000092.5(COL4A4):c.88C>T (p.Leu30Phe)
NM_000092.5(COL4A4):c.931-18dup rs746509796
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421

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