ClinVar Miner

List of variants reported as benign for Knobloch syndrome 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.107-12592T>C rs914230 0.96979
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.107-12073A>G rs2236451 0.39262
NM_001379500.1(COL18A1):c.1920T>C (p.Leu640=) rs11702425 0.32196
NM_001379500.1(COL18A1):c.107-11850G>A rs11702494 0.23796
NM_001379500.1(COL18A1):c.1674+34A>C rs12482088 0.23085
NM_001379500.1(COL18A1):c.846G>T (p.Thr282=) rs2230688 0.17750
NM_001379500.1(COL18A1):c.3231A>G (p.Thr1077=) rs12483761 0.14219
NM_001379500.1(COL18A1):c.1981G>A (p.Val661Ile) rs62000962 0.12931
NM_001379500.1(COL18A1):c.1275C>T (p.Pro425=) rs1131100 0.12789
NM_001379500.1(COL18A1):c.1290C>T (p.Asp430=) rs1131101 0.12488
NM_001379500.1(COL18A1):c.1428C>T (p.Phe476=) rs2236467 0.12399
NM_001379500.1(COL18A1):c.2683+702G>A rs114832456 0.11163
NM_001379500.1(COL18A1):c.1224C>G (p.Gly408=) rs13046486 0.09402
NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg) rs79980197 0.07777
NM_001379500.1(COL18A1):c.828G>A (p.Ala276=) rs2230686 0.07106
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn) rs12483377 0.06693
NM_001379500.1(COL18A1):c.1950G>A (p.Pro650=) rs61731167 0.05785
NM_001379500.1(COL18A1):c.*277T>C rs17004784 0.03626
NM_001379500.1(COL18A1):c.2340G>C (p.Gln780His) rs2230693 0.03222
NM_001379500.1(COL18A1):c.603C>T (p.Ala201=) rs17004776 0.03174
NM_001379500.1(COL18A1):c.510A>G (p.Ala170=) rs76754353 0.03171
NM_001379500.1(COL18A1):c.420A>G (p.Thr140=) rs17004775 0.03170
NM_001379500.1(COL18A1):c.915G>T (p.Val305=) rs17338853 0.02722
NM_001379500.1(COL18A1):c.3681C>T (p.Ile1227=) rs2838952 0.02704
NM_001379500.1(COL18A1):c.1221+14T>C rs9976881 0.02526
NM_001379500.1(COL18A1):c.2277+14G>T rs145217573 0.02518
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.1509C>T (p.Gly503=) rs112723616 0.01339
NM_001379500.1(COL18A1):c.1009G>A (p.Gly337Ser) rs76547444 0.01152
NM_001379500.1(COL18A1):c.126G>A (p.Val42=) rs115800039 0.01130
NM_001379500.1(COL18A1):c.241C>T (p.Arg81Trp) rs76658745 0.01115
NM_001379500.1(COL18A1):c.2196G>A (p.Pro732=) rs115470104 0.00930
NM_001379500.1(COL18A1):c.2173G>A (p.Val725Met) rs116111018 0.00795
NM_001379500.1(COL18A1):c.*6G>A rs138930698 0.00643
NM_001379500.1(COL18A1):c.612C>T (p.Phe204=) rs373748503 0.00581
NM_001379500.1(COL18A1):c.1390G>A (p.Asp464Asn) rs61738822 0.00478
NM_001379500.1(COL18A1):c.1143G>A (p.Ala381=) rs2230689 0.00474
NM_001379500.1(COL18A1):c.2815G>A (p.Gly939Ser) rs753363173 0.00267
NM_001379500.1(COL18A1):c.*918C>T rs117981301 0.00108
NM_001379500.1(COL18A1):c.1683A>G (p.Ala561=) rs75222922 0.00016
NM_001379500.1(COL18A1):c.2032-10G>A rs368213286 0.00004
NM_001379500.1(COL18A1):c.*1129A>C rs576842258 0.00001
NM_001379500.1(COL18A1):c.*1148_*1149insCA rs78063943
NM_001379500.1(COL18A1):c.*306G>C rs17004785
NM_001379500.1(COL18A1):c.*71G>A rs8199
NM_001379500.1(COL18A1):c.*852G>C rs17004786
NM_001379500.1(COL18A1):c.1305C>A (p.Gly435=) rs1131102
NM_001379500.1(COL18A1):c.1312-37G>A rs9979845
NM_001379500.1(COL18A1):c.1398+7C>G rs74439012
NM_001379500.1(COL18A1):c.2157+14G>A rs200650755
NM_001379500.1(COL18A1):c.2157+79dup rs148502711
NM_001379500.1(COL18A1):c.2577+37del rs397867048
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.2824_2837= (p.Gly942_Pro946=)
NM_001379500.1(COL18A1):c.2824_2838del (p.Gly942_Pro946del)
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3]) rs78227997
NM_001379500.1(COL18A1):c.3495+14del rs3835286
NM_001379500.1(COL18A1):c.624G>A (p.Ala208=) rs76148908
NM_001379500.1(COL18A1):c.776G>T (p.Arg259Leu) rs62000965
NM_001379500.1(COL18A1):c.837C>A (p.Pro279=) rs2230687
NM_001379500.1(COL18A1):c.837C>G (p.Pro279=) rs2230687

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