ClinVar Miner

List of variants studied for Knobloch syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 158
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HGVS dbSNP
COL18A1, 2-BP DEL
COL18A1, 2-BP DEL, 3514CT
COL18A1, 2-BP DEL, 3617CT
COL18A1, IVS1AS, A-T, -2
COL18A1, IVS36DS, A-C, +3
NC_000021.9:g.45507585C>T
NM_030582.4(COL18A1):c.*1088C>T rs756987643
NM_030582.4(COL18A1):c.*1129A>C rs576842258
NM_030582.4(COL18A1):c.*1148_*1149insCA rs78063943
NM_030582.4(COL18A1):c.*1157C>G rs527507454
NM_030582.4(COL18A1):c.*1203A>G rs886057147
NM_030582.4(COL18A1):c.*1222C>T rs569200043
NM_030582.4(COL18A1):c.*133T>C rs886057138
NM_030582.4(COL18A1):c.*134G>A rs570448232
NM_030582.4(COL18A1):c.*16G>A rs7499
NM_030582.4(COL18A1):c.*305C>T rs540888320
NM_030582.4(COL18A1):c.*306G>C rs17004785
NM_030582.4(COL18A1):c.*30G>A rs373537387
NM_030582.4(COL18A1):c.*342C>G rs886057139
NM_030582.4(COL18A1):c.*369C>T rs886057140
NM_030582.4(COL18A1):c.*390G>A rs760605806
NM_030582.4(COL18A1):c.*505G>A rs886057141
NM_030582.4(COL18A1):c.*584C>A rs886057143
NM_030582.4(COL18A1):c.*638G>A rs886057144
NM_030582.4(COL18A1):c.*71G>A rs8199
NM_030582.4(COL18A1):c.*852G>C rs17004786
NM_030582.4(COL18A1):c.*866C>T rs886057146
NM_030582.4(COL18A1):c.1050A>G (p.Ala350=) rs76754353
NM_030582.4(COL18A1):c.1143C>T (p.Ala381=) rs17004776
NM_030582.4(COL18A1):c.1144G>A (p.Gly382Arg) rs373735265
NM_030582.4(COL18A1):c.1153G>A (p.Val385Met) rs201116208
NM_030582.4(COL18A1):c.1164G>A (p.Ala388=) rs76148908
NM_030582.4(COL18A1):c.1191+6C>T rs755778352
NM_030582.4(COL18A1):c.120T>C (p.His40=) rs914230
NM_030582.4(COL18A1):c.1231G>A (p.Val411Met) rs202012055
NM_030582.4(COL18A1):c.1233G>A (p.Val411=) rs149772252
NM_030582.4(COL18A1):c.1254C>T (p.Asp418=) rs369721525
NM_030582.4(COL18A1):c.1278+5_1278+8del rs1568898560
NM_030582.4(COL18A1):c.1283C>T (p.Ser428Phe) rs200073359
NM_030582.4(COL18A1):c.1316G>T (p.Arg439Leu) rs62000965
NM_030582.4(COL18A1):c.1320G>C (p.Glu440Asp) rs560442019
NM_030582.4(COL18A1):c.1339-3C>G rs375628545
NM_030582.4(COL18A1):c.1341C>T (p.Gly447=) rs145912433
NM_030582.4(COL18A1):c.1368G>A (p.Ala456=) rs2230686
NM_030582.4(COL18A1):c.1377C>G (p.Pro459=) rs2230687
NM_030582.4(COL18A1):c.1386G>T (p.Thr462=) rs2230688
NM_030582.4(COL18A1):c.1455G>T (p.Val485=) rs17338853
NM_030582.4(COL18A1):c.1536C>T (p.Arg512=) rs530808102
NM_030582.4(COL18A1):c.1549G>A (p.Gly517Ser) rs76547444
NM_030582.4(COL18A1):c.1584G>A (p.Pro528=) rs886057122
NM_030582.4(COL18A1):c.1599G>A (p.Arg533=) rs886057123
NM_030582.4(COL18A1):c.1610dup (p.Gly538fs) rs1555860555
NM_030582.4(COL18A1):c.1683G>A (p.Ala561=) rs2230689
NM_030582.4(COL18A1):c.1761+14T>C rs9976881
NM_030582.4(COL18A1):c.1761+20dup rs200362222
NM_030582.4(COL18A1):c.1764C>G (p.Gly588=) rs13046486
NM_030582.4(COL18A1):c.1815C>T (p.Pro605=) rs1131100
NM_030582.4(COL18A1):c.1830C>T (p.Asp610=) rs1131101
NM_030582.4(COL18A1):c.1845C>A (p.Gly615=) rs1131102
NM_030582.4(COL18A1):c.1930G>A (p.Asp644Asn) rs61738822
NM_030582.4(COL18A1):c.1938+7C>G rs74439012
NM_030582.4(COL18A1):c.1968C>T (p.Phe656=) rs2236467
NM_030582.4(COL18A1):c.1993-6G>A rs200886865
NM_030582.4(COL18A1):c.2047G>A (p.Gly683Ser) rs368194132
NM_030582.4(COL18A1):c.2049C>T (p.Gly683=) rs112723616
NM_030582.4(COL18A1):c.2121C>G (p.Arg707=) rs369409660
NM_030582.4(COL18A1):c.2153G>T (p.Gly718Val) rs1114167359
NM_030582.4(COL18A1):c.2199G>A (p.Gly733=) rs768751253
NM_030582.4(COL18A1):c.2215-6G>A rs142726108
NM_030582.4(COL18A1):c.2227G>A (p.Ala743Thr) rs201476017
NM_030582.4(COL18A1):c.2247C>T (p.Ser749=) rs559725056
NM_030582.4(COL18A1):c.2300C>T (p.Ala767Val) rs199823547
NM_030582.4(COL18A1):c.2460T>C (p.Leu820=) rs11702425
NM_030582.4(COL18A1):c.2478G>T (p.Val826=) rs886057125
NM_030582.4(COL18A1):c.2490G>A (p.Pro830=) rs61731167
NM_030582.4(COL18A1):c.2521G>A (p.Val841Ile) rs62000962
NM_030582.4(COL18A1):c.2526C>T (p.Pro842=) rs754862849
NM_030582.4(COL18A1):c.2571+9C>T rs780751282
NM_030582.4(COL18A1):c.2572-10G>A rs368213286
NM_030582.4(COL18A1):c.2572-6C>T rs886057126
NM_030582.4(COL18A1):c.2587A>C (p.Arg863=) rs886057127
NM_030582.4(COL18A1):c.2625C>T (p.Asp875=) rs373006940
NM_030582.4(COL18A1):c.2657C>G (p.Pro886Arg) rs79980197
NM_030582.4(COL18A1):c.2688G>A (p.Ser896=) rs374522196
NM_030582.4(COL18A1):c.2713G>A (p.Val905Met) rs116111018
NM_030582.4(COL18A1):c.2727+7G>C rs369701764
NM_030582.4(COL18A1):c.2736G>A (p.Pro912=) rs115470104
NM_030582.4(COL18A1):c.2817+14G>T rs145217573
NM_030582.4(COL18A1):c.2819G>A (p.Gly940Asp) rs770537257
NM_030582.4(COL18A1):c.2880G>C (p.Gln960His) rs2230693
NM_030582.4(COL18A1):c.2919+7C>T rs202100967
NM_030582.4(COL18A1):c.2920-15C>T rs754575228
NM_030582.4(COL18A1):c.2969G>A (p.Arg990Gln) rs751578852
NM_030582.4(COL18A1):c.2974-8C>T rs367814420
NM_030582.4(COL18A1):c.3018G>A (p.Pro1006=) rs369390092
NM_030582.4(COL18A1):c.3117+9C>T rs774784084
NM_030582.4(COL18A1):c.3118-12C>T rs201057172
NM_030582.4(COL18A1):c.3118G>T (p.Val1040Leu) rs200779516
NM_030582.4(COL18A1):c.3163A>G (p.Asn1055Asp) rs371993501
NM_030582.4(COL18A1):c.3172C>T (p.Pro1058Ser) rs377290522
NM_030582.4(COL18A1):c.3213dup (p.Gly1072fs) rs749009747
NM_030582.4(COL18A1):c.3223+11C>G rs886057128
NM_030582.4(COL18A1):c.3233C>T (p.Pro1078Leu) rs201753320
NM_030582.4(COL18A1):c.3234G>A (p.Pro1078=) rs190374248
NM_030582.4(COL18A1):c.3268-8G>A rs116618591
NM_030582.4(COL18A1):c.3320_3321insT (p.Gly1108fs) rs771218061
NM_030582.4(COL18A1):c.3321C>T (p.Pro1107=) rs11544970
NM_030582.4(COL18A1):c.3327C>T (p.Gly1109=) rs11544971
NM_030582.4(COL18A1):c.3328G>A (p.Gly1110Ser) rs771054336
NM_030582.4(COL18A1):c.3355G>A (p.Gly1119Ser) rs753363173
NM_030582.4(COL18A1):c.3363C>A (p.Pro1121=) rs543392161
NM_030582.4(COL18A1):c.3363dup (p.Gly1122fs) rs769882681
NM_030582.4(COL18A1):c.3364_3377= (p.Gly1122_Pro1126=) rs78227997
NM_030582.4(COL18A1):c.3372A>C (p.Pro1124=) rs751825604
NM_030582.4(COL18A1):c.3430C>T (p.Pro1144Ser) rs761528498
NM_030582.4(COL18A1):c.3487C>T (p.Pro1163Ser) rs753873000
NM_030582.4(COL18A1):c.3495_3503CCCCCCAGG[1] (p.1162_1164GPP[3]) rs759403198
NM_030582.4(COL18A1):c.3509_3518del (p.Pro1170fs) rs756797124
NM_030582.4(COL18A1):c.3561C>T (p.Gly1187=) rs886057129
NM_030582.4(COL18A1):c.3762A>G (p.Thr1254=) rs12483761
NM_030582.4(COL18A1):c.3771A>G (p.Pro1257=) rs886057130
NM_030582.4(COL18A1):c.3898G>A (p.Ala1300Thr) rs886057131
NM_030582.4(COL18A1):c.3978G>A (p.Ala1326=) rs1050351
NM_030582.4(COL18A1):c.4035+14del rs3835286
NM_030582.4(COL18A1):c.4053_4054del (p.Leu1352fs)
NM_030582.4(COL18A1):c.4054_4055del (p.Leu1352fs) rs398122391
NM_030582.4(COL18A1):c.4078C>T (p.Arg1360Cys) rs746594158
NM_030582.4(COL18A1):c.4079G>A (p.Arg1360His) rs770331440
NM_030582.4(COL18A1):c.4089C>T (p.Asp1363=) rs886057132
NM_030582.4(COL18A1):c.4189G>A (p.Ala1397Thr) rs886057133
NM_030582.4(COL18A1):c.4212C>T (p.Ile1404=) rs2838952
NM_030582.4(COL18A1):c.4213G>A (p.Val1405Ile) rs750065884
NM_030582.4(COL18A1):c.4221C>T (p.Leu1407=) rs886057134
NM_030582.4(COL18A1):c.4296C>T (p.Arg1432=) rs886057135
NM_030582.4(COL18A1):c.4309G>A (p.Asp1437Asn) rs12483377
NM_030582.4(COL18A1):c.4318G>A (p.Asp1440Asn) rs886057136
NM_030582.4(COL18A1):c.4349+2T>C rs113847452
NM_030582.4(COL18A1):c.4363G>T (p.Gly1455Cys) rs886057137
NM_030582.4(COL18A1):c.4490_4491insTGCC (p.Cys1498fs) rs1555877107
NM_030582.4(COL18A1):c.515G>A (p.Arg172His) rs200284308
NM_030582.4(COL18A1):c.646+587C>A rs764709181
NM_030582.4(COL18A1):c.650G>A (p.Arg217His) rs771318359
NM_030582.4(COL18A1):c.666G>A (p.Val222=) rs115800039
NM_030582.4(COL18A1):c.757G>A (p.Asp253Asn) rs370054491
NM_030582.4(COL18A1):c.781C>T (p.Arg261Trp) rs76658745
NM_030582.4(COL18A1):c.960A>G (p.Thr320=) rs17004775
NM_130445.2(COL18A1):c.2118dupC (p.Gly707Argfs) rs775168204
NM_194255.4(SLC19A1):c.*2396G>T rs186538749
NM_194255.4(SLC19A1):c.*2409G>A rs886057145
NM_194255.4(SLC19A1):c.*2411T>A rs17255379
NM_194255.4(SLC19A1):c.*2713dup rs545057492
NM_194255.4(SLC19A1):c.*2728A>G rs560265269
NM_194255.4(SLC19A1):c.*2762C>T rs555167805
NM_194255.4(SLC19A1):c.*2776G>A rs548084117
NM_194255.4(SLC19A1):c.*2920C>T rs7867
NM_194255.4(SLC19A1):c.*2958G>T rs17255281
NM_194255.4(SLC19A1):c.*2983A>G rs17004784
NM_199355.4(ADAMTS18):c.536C>T (p.Ser179Leu) rs387906972

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