ClinVar Miner

List of variants in gene COL18A1 reported as benign by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.1920T>C (p.Leu640=) rs11702425 0.32196
NM_001379500.1(COL18A1):c.846G>T (p.Thr282=) rs2230688 0.17750
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.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.1950G>A (p.Pro650=) rs61731167 0.05785
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.1221+14T>C rs9976881 0.02526
NM_001379500.1(COL18A1):c.2277+14G>T rs145217573 0.02518
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.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.1683A>G (p.Ala561=) rs75222922 0.00016
NM_001379500.1(COL18A1):c.2032-10G>A rs368213286 0.00004
NM_001379500.1(COL18A1):c.1305C>A (p.Gly435=) rs1131102
NM_001379500.1(COL18A1):c.1398+7C>G rs74439012
NM_001379500.1(COL18A1):c.2157+14G>A rs200650755
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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