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: 67
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HGVS dbSNP
NM_030582.3(COL18A1):c.*16G>A rs7499
NM_030582.3(COL18A1):c.3268-8G>A rs116618591
NM_030582.3(COL18A1):c.3321C>T (p.Pro1107=) rs11544970
NM_030582.3(COL18A1):c.3369_3377delCCCAGGCCC (p.Pro1124_Pro1126del) rs78227997
NM_030582.3(COL18A1):c.3504_3512del (p.Gly1171_Pro1173del)
NM_030582.3(COL18A1):c.3762A>G (p.Thr1254=) rs12483761
NM_030582.3(COL18A1):c.3978G>A (p.Ala1326=) rs1050351
NM_030582.3(COL18A1):c.4026+14delC rs3835286
NM_030582.3(COL18A1):c.4309G>A (p.Asp1437Asn) rs12483377
NM_030582.3:c.3509_3518del
NM_030582.4(COL18A1):c.4340+2T>C
NM_130444.2(COL18A1):c.4917C>T (p.Ile1639=) rs2838952
NM_130444.2(COL18A1):c.5195_5196insTGCC (p.Cys1733Alafs) rs1555877107
NM_130445.2(COL18A1):c.3514_3515delCT (p.Leu1172Valfs) rs398122391
NM_130445.3(COL18A1):c.*1088C>T rs756987643
NM_130445.3(COL18A1):c.*1129A>C rs576842258
NM_130445.3(COL18A1):c.*1148_*1149insCA rs78063943
NM_130445.3(COL18A1):c.*1157C>G rs527507454
NM_130445.3(COL18A1):c.*1203A>G rs886057147
NM_130445.3(COL18A1):c.*1222C>T rs569200043
NM_130445.3(COL18A1):c.*133T>C rs886057138
NM_130445.3(COL18A1):c.*134G>A rs570448232
NM_130445.3(COL18A1):c.*277T>C rs17004784
NM_130445.3(COL18A1):c.*302C>A rs17255281
NM_130445.3(COL18A1):c.*305C>T rs540888320
NM_130445.3(COL18A1):c.*306G>C rs17004785
NM_130445.3(COL18A1):c.*30G>A rs373537387
NM_130445.3(COL18A1):c.*340G>A rs7867
NM_130445.3(COL18A1):c.*342C>G rs886057139
NM_130445.3(COL18A1):c.*369C>T rs886057140
NM_130445.3(COL18A1):c.*390G>A rs760605806
NM_130445.3(COL18A1):c.*484C>T rs548084117
NM_130445.3(COL18A1):c.*498G>A rs555167805
NM_130445.3(COL18A1):c.*505G>A rs886057141
NM_130445.3(COL18A1):c.*532T>C rs560265269
NM_130445.3(COL18A1):c.*550dup rs545057492
NM_130445.3(COL18A1):c.*584C>A rs886057143
NM_130445.3(COL18A1):c.*638G>A rs886057144
NM_130445.3(COL18A1):c.*71G>A rs8199
NM_130445.3(COL18A1):c.*849A>T rs17255379
NM_130445.3(COL18A1):c.*851C>T rs886057145
NM_130445.3(COL18A1):c.*852G>C rs17004786
NM_130445.3(COL18A1):c.*864C>A rs186538749
NM_130445.3(COL18A1):c.*866C>T rs886057146
NM_130445.3(COL18A1):c.2693C>T (p.Pro898Leu) rs201753320
NM_130445.3(COL18A1):c.2694G>A (p.Pro898=) rs190374248
NM_130445.3(COL18A1):c.2787C>T (p.Gly929=) rs11544971
NM_130445.3(COL18A1):c.2788G>A (p.Gly930Ser) rs771054336
NM_130445.3(COL18A1):c.2815G>A (p.Gly939Ser) rs753363173
NM_130445.3(COL18A1):c.2823C>A (p.Pro941=) rs543392161
NM_130445.3(COL18A1):c.2832A>C (p.Pro944=) rs751825604
NM_130445.3(COL18A1):c.2890C>T (p.Pro964Ser) rs761528498
NM_130445.3(COL18A1):c.2947C>T (p.Pro983Ser) rs753873000
NM_130445.3(COL18A1):c.3021C>T (p.Gly1007=) rs886057129
NM_130445.3(COL18A1):c.3231A>G (p.Pro1077=) rs886057130
NM_130445.3(COL18A1):c.3358G>A (p.Ala1120Thr) rs886057131
NM_130445.3(COL18A1):c.3538C>T (p.Arg1180Cys) rs746594158
NM_130445.3(COL18A1):c.3539G>A (p.Arg1180His) rs770331440
NM_130445.3(COL18A1):c.3549C>T (p.Asp1183=) rs886057132
NM_130445.3(COL18A1):c.3649G>A (p.Ala1217Thr) rs886057133
NM_130445.3(COL18A1):c.3673G>A (p.Val1225Ile) rs750065884
NM_130445.3(COL18A1):c.3681C>T (p.Leu1227=) rs886057134
NM_130445.3(COL18A1):c.3756C>T (p.Arg1252=) rs886057135
NM_130445.3(COL18A1):c.3778G>A (p.Asp1260Asn) rs886057136
NM_130445.3(COL18A1):c.3823G>T (p.Gly1275Cys) rs886057137
NM_130445.4(COL18A1):c.2780_2781insT (p.Gly928Argfs)
NM_130445.4(COL18A1):c.2823dup (p.Gly942Argfs) rs769882681

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