ClinVar Miner

List of variants in gene COL18A1, SLC19A1 studied for Knobloch syndrome

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP
NM_030582.4(COL18A1):c.*126C>T
NM_030582.4(COL18A1):c.*12A>T
NM_030582.4(COL18A1):c.*133T>C rs886057138
NM_030582.4(COL18A1):c.*134G>A rs570448232
NM_030582.4(COL18A1):c.*13T>A
NM_030582.4(COL18A1):c.*16G>A rs7499
NM_030582.4(COL18A1):c.*30G>A rs373537387
NM_030582.4(COL18A1):c.*6G>A
NM_030582.4(COL18A1):c.*71G>A rs8199
NM_030582.4(COL18A1):c.*95A>C
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.3268-12T>C
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>G (p.Pro1107=)
NM_030582.4(COL18A1):c.3321C>T (p.Pro1107=) rs11544970
NM_030582.4(COL18A1):c.3322G>A (p.Gly1108Arg) rs187721798
NM_030582.4(COL18A1):c.3322G>C (p.Gly1108Arg) rs187721798
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.3330C>T (p.Gly1110=) rs564134000
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.3369_3377del (p.1118_1120PGP[2]) 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.3772C>T (p.Arg1258Ter) rs771752014
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) rs1602651770
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.4355_4356TG[1] (p.Trp1453fs) rs1602667345
NM_030582.4(COL18A1):c.4363G>T (p.Gly1455Cys) rs886057137
NM_030582.4(COL18A1):c.4490_4491insTGCC (p.Cys1498fs) rs1555877107
NM_194255.4(SLC19A1):c.*2025A>G
NM_194255.4(SLC19A1):c.*2038G>A rs569200043
NM_194255.4(SLC19A1):c.*2051G>A
NM_194255.4(SLC19A1):c.*2057T>C rs886057147
NM_194255.4(SLC19A1):c.*2103G>C rs527507454
NM_194255.4(SLC19A1):c.*2111_*2112insTG rs78063943
NM_194255.4(SLC19A1):c.*2131T>G rs576842258
NM_194255.4(SLC19A1):c.*2153G>C
NM_194255.4(SLC19A1):c.*2172G>A rs756987643
NM_194255.4(SLC19A1):c.*2198G>A
NM_194255.4(SLC19A1):c.*2260G>T
NM_194255.4(SLC19A1):c.*2306G>A
NM_194255.4(SLC19A1):c.*2342G>A
NM_194255.4(SLC19A1):c.*2394G>A rs886057146
NM_194255.4(SLC19A1):c.*2396G>T rs186538749
NM_194255.4(SLC19A1):c.*2408C>G rs17004786
NM_194255.4(SLC19A1):c.*2409G>A rs886057145
NM_194255.4(SLC19A1):c.*2411T>A rs17255379
NM_194255.4(SLC19A1):c.*2436C>T
NM_194255.4(SLC19A1):c.*2528G>A
NM_194255.4(SLC19A1):c.*2542T>C
NM_194255.4(SLC19A1):c.*2622C>T rs886057144
NM_194255.4(SLC19A1):c.*2676G>T rs886057143
NM_194255.4(SLC19A1):c.*2713dup rs545057492
NM_194255.4(SLC19A1):c.*2728A>G rs560265269
NM_194255.4(SLC19A1):c.*2755C>T rs886057141
NM_194255.4(SLC19A1):c.*2762C>T rs555167805
NM_194255.4(SLC19A1):c.*2776G>A rs548084117
NM_194255.4(SLC19A1):c.*2829C>T
NM_194255.4(SLC19A1):c.*2870C>T rs760605806
NM_194255.4(SLC19A1):c.*2891G>A rs886057140
NM_194255.4(SLC19A1):c.*2918G>C rs886057139
NM_194255.4(SLC19A1):c.*2920C>T rs7867
NM_194255.4(SLC19A1):c.*2954C>G rs17004785
NM_194255.4(SLC19A1):c.*2955G>A rs540888320
NM_194255.4(SLC19A1):c.*2958G>T rs17255281
NM_194255.4(SLC19A1):c.*2969C>T
NM_194255.4(SLC19A1):c.*2983A>G rs17004784

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