ClinVar Miner

List of variants in gene COL18A1, SLC19A1 studied for retinal disorder

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.*340G>A rs7867 0.46140
NM_001379500.1(COL18A1):c.3447G>A (p.Ala1149=) rs1050351 0.43308
NM_001379500.1(COL18A1):c.*16G>A rs7499 0.41352
NM_001379500.1(COL18A1):c.3231A>G (p.Thr1077=) rs12483761 0.14219
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn) rs12483377 0.06693
NM_001379500.1(COL18A1):c.*277T>C rs17004784 0.03626
NM_001379500.1(COL18A1):c.3681C>T (p.Ile1227=) rs2838952 0.02704
NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=) rs11544970 0.02268
NM_001379500.1(COL18A1):c.2728-8G>A rs116618591 0.01979
NM_001379500.1(COL18A1):c.2787C>T (p.Gly929=) rs11544971 0.01462
NM_001379500.1(COL18A1):c.*302C>A rs17255281 0.00666
NM_001379500.1(COL18A1):c.*849A>T rs17255379 0.00666
NM_001379500.1(COL18A1):c.*6G>A rs138930698 0.00643
NM_001379500.1(COL18A1):c.2815G>A (p.Gly939Ser) rs753363173 0.00267
NM_001379500.1(COL18A1):c.3036G>A (p.Pro1012=) rs370656151 0.00231
NM_001379500.1(COL18A1):c.*864C>A rs186538749 0.00189
NM_001379500.1(COL18A1):c.*532T>C rs560265269 0.00163
NM_001379500.1(COL18A1):c.2948G>A (p.Arg983His) rs200299380 0.00163
NM_001379500.1(COL18A1):c.3316C>T (p.Arg1106Trp) rs377620137 0.00154
NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln) rs200484625 0.00148
NM_001379500.1(COL18A1):c.*918C>T rs117981301 0.00108
NM_001379500.1(COL18A1):c.2790C>T (p.Gly930=) rs564134000 0.00079
NM_001379500.1(COL18A1):c.*484C>T rs548084117 0.00070
NM_001379500.1(COL18A1):c.*498G>A rs555167805 0.00051
NM_001379500.1(COL18A1):c.*1209C>T rs531456579 0.00049
NM_001379500.1(COL18A1):c.*431G>A rs368394587 0.00048
NM_001379500.1(COL18A1):c.*1107C>G rs543512810 0.00044
NM_001379500.1(COL18A1):c.*718A>G rs571996497 0.00036
NM_001379500.1(COL18A1):c.*30G>A rs373537387 0.00033
NM_001379500.1(COL18A1):c.*1000C>A rs1017336505 0.00030
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) rs398122391 0.00029
NM_001379500.1(COL18A1):c.2693C>T (p.Pro898Leu) rs201753320 0.00026
NM_001379500.1(COL18A1):c.2694G>A (p.Pro898=) rs190374248 0.00025
NM_001379500.1(COL18A1):c.2947C>T (p.Arg983Cys) rs372973695 0.00025
NM_001379500.1(COL18A1):c.*291G>A rs148610040 0.00022
NM_001379500.1(COL18A1):c.*1157C>G rs527507454 0.00016
NM_001379500.1(COL18A1):c.*1222C>T rs569200043 0.00016
NM_001379500.1(COL18A1):c.*134G>A rs570448232 0.00015
NM_001379500.1(COL18A1):c.3761C>T (p.Ala1254Val) rs763990411 0.00015
NM_001379500.1(COL18A1):c.3757G>A (p.Gly1253Arg) rs374321733 0.00011
NM_001379500.1(COL18A1):c.*505G>A rs886057141 0.00009
NM_001379500.1(COL18A1):c.*851C>T rs886057145 0.00009
NM_001379500.1(COL18A1):c.2869-11G>A rs566226316 0.00009
NM_001379500.1(COL18A1):c.3491C>T (p.Pro1164Leu) rs532834770 0.00009
NM_001379500.1(COL18A1):c.*1062C>T rs992675252 0.00008
NM_001379500.1(COL18A1):c.*824G>A rs538694500 0.00008
NM_001379500.1(COL18A1):c.*1088C>T rs756987643 0.00007
NM_001379500.1(COL18A1):c.*638G>A rs886057144 0.00007
NM_001379500.1(COL18A1):c.*133T>C rs886057138 0.00006
NM_001379500.1(COL18A1):c.*732C>T rs751709666 0.00006
NM_001379500.1(COL18A1):c.*95A>C rs1002803301 0.00006
NM_001379500.1(COL18A1):c.3336C>T (p.Thr1112=) rs781100621 0.00006
NM_001379500.1(COL18A1):c.3466G>A (p.Ala1156Thr) rs754037826 0.00005
NM_001379500.1(COL18A1):c.2788G>A (p.Gly930Ser) rs771054336 0.00004
NM_001379500.1(COL18A1):c.2929G>A (p.Gly977Ser) rs371933414 0.00003
NM_001379500.1(COL18A1):c.3317G>A (p.Arg1106Gln) rs752092795 0.00003
NM_001379500.1(COL18A1):c.*369C>T rs886057140 0.00002
NM_001379500.1(COL18A1):c.2780_2781insT (p.Gly928fs) rs771218061 0.00002
NM_001379500.1(COL18A1):c.3547C>T (p.Arg1183Cys) rs746594158 0.00002
NM_001379500.1(COL18A1):c.3682G>A (p.Val1228Ile) rs750065884 0.00002
NM_001379500.1(COL18A1):c.*1129A>C rs576842258 0.00001
NM_001379500.1(COL18A1):c.*1235T>C rs1441665870 0.00001
NM_001379500.1(COL18A1):c.*12A>T rs981074972 0.00001
NM_001379500.1(COL18A1):c.*390G>A rs760605806 0.00001
NM_001379500.1(COL18A1):c.*584C>A rs886057143 0.00001
NM_001379500.1(COL18A1):c.3241C>T (p.Arg1081Ter) rs771752014 0.00001
NM_001379500.1(COL18A1):c.3446C>T (p.Ala1149Val) rs1395632086 0.00001
NM_001379500.1(COL18A1):c.3548G>A (p.Arg1183His) rs770331440 0.00001
NM_001379500.1(COL18A1):c.3809+2T>C rs113847452 0.00001
NM_001379500.1(COL18A1):c.*1148_*1149insCA rs78063943
NM_001379500.1(COL18A1):c.*1203A>G rs886057147
NM_001379500.1(COL18A1):c.*126C>T rs571271547
NM_001379500.1(COL18A1):c.*13T>A rs747722915
NM_001379500.1(COL18A1):c.*305C>T rs540888320
NM_001379500.1(COL18A1):c.*306G>C rs17004785
NM_001379500.1(COL18A1):c.*342C>G rs886057139
NM_001379500.1(COL18A1):c.*550dup rs545057492
NM_001379500.1(COL18A1):c.*71G>A rs8199
NM_001379500.1(COL18A1):c.*852G>C rs17004786
NM_001379500.1(COL18A1):c.*866C>T rs886057146
NM_001379500.1(COL18A1):c.*954C>T rs1602673287
NM_001379500.1(COL18A1):c.2702TTC[1] (p.Leu902del) rs371849586
NM_001379500.1(COL18A1):c.2728-12T>C rs2037056022
NM_001379500.1(COL18A1):c.2728G>A (p.Gly910Arg) rs767090801
NM_001379500.1(COL18A1):c.2781C>G (p.Pro927=) rs11544970
NM_001379500.1(COL18A1):c.2782G>A (p.Gly928Arg) rs187721798
NM_001379500.1(COL18A1):c.2782G>C (p.Gly928Arg) rs187721798
NM_001379500.1(COL18A1):c.2823C>A (p.Pro941=) rs543392161
NM_001379500.1(COL18A1):c.2823dup (p.Gly942fs) rs769882681
NM_001379500.1(COL18A1):c.2824_2837= (p.Gly942_Pro946=)
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3]) rs78227997
NM_001379500.1(COL18A1):c.2829_2846del (p.938PGP[2]) rs78227997
NM_001379500.1(COL18A1):c.2832A>C (p.Pro944=) rs751825604
NM_001379500.1(COL18A1):c.2899C>T (p.Pro967Ser) rs761528498
NM_001379500.1(COL18A1):c.2956C>T (p.Pro986Ser) rs753873000
NM_001379500.1(COL18A1):c.2964CCCCCCAGG[1] (p.985GPP[3]) rs759403198
NM_001379500.1(COL18A1):c.2978_2987del (p.Pro993fs) rs756797124
NM_001379500.1(COL18A1):c.3013+3A>C rs770631950
NM_001379500.1(COL18A1):c.3030C>T (p.Gly1010=) rs886057129
NM_001379500.1(COL18A1):c.3044_3062del (p.Pro1015fs) rs1365450066
NM_001379500.1(COL18A1):c.3083C>A (p.Ser1028Ter)
NM_001379500.1(COL18A1):c.3240A>G (p.Pro1080=) rs886057130
NM_001379500.1(COL18A1):c.3310_3311delinsTG (p.Pro1104Trp) rs2146119886
NM_001379500.1(COL18A1):c.3329_3336del (p.His1110fs)
NM_001379500.1(COL18A1):c.3367G>A (p.Ala1123Thr) rs886057131
NM_001379500.1(COL18A1):c.3448C>T (p.Arg1150Ter) rs1057518802
NM_001379500.1(COL18A1):c.3495+14C>G rs191291169
NM_001379500.1(COL18A1):c.3495+14del rs3835286
NM_001379500.1(COL18A1):c.3522_3523del (p.Leu1175fs) rs1602651770
NM_001379500.1(COL18A1):c.3532_3533del (p.Gly1178fs) rs2037488871
NM_001379500.1(COL18A1):c.3558C>T (p.Asp1186=) rs886057132
NM_001379500.1(COL18A1):c.3658G>A (p.Ala1220Thr) rs886057133
NM_001379500.1(COL18A1):c.3690C>T (p.Leu1230=) rs886057134
NM_001379500.1(COL18A1):c.3765C>T (p.Arg1255=) rs886057135
NM_001379500.1(COL18A1):c.3787G>A (p.Asp1263Asn) rs886057136
NM_001379500.1(COL18A1):c.3826_3827del (p.Trp1276fs) rs1602667345
NM_001379500.1(COL18A1):c.3832G>T (p.Gly1278Cys) rs886057137
NM_001379500.1(COL18A1):c.3959_3960insTGCC (p.Cys1321fs) rs1555877107
NM_030582.4(COL18A1):c.3364_3371del (p.Gly1122fs) rs1555874538

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