ClinVar Miner

List of variants in gene COL18A1 reported as benign for not specified

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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.2352+28A>G rs749627 0.49789
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.652-42A>G rs2236456 0.23845
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.1981G>A (p.Val661Ile) rs62000962 0.12931
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.915G>T (p.Val305=) rs17338853 0.02722
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.107-12152C>T rs142892701 0.00779
NM_001379500.1(COL18A1):c.107-12174G>A rs148957774 0.00732
NM_001379500.1(COL18A1):c.107-12656C>T rs7277693 0.00639
NM_001379500.1(COL18A1):c.612C>T (p.Phe204=) rs373748503 0.00581
NM_001379500.1(COL18A1):c.107-12381G>A rs114139997 0.00549
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.667C>T (p.Leu223=) rs60162212 0.00449
NM_001379500.1(COL18A1):c.1998C>T (p.Gly666=) rs62000963 0.00366
NM_001379500.1(COL18A1):c.1675-6G>A rs142726108 0.00263
NM_001379500.1(COL18A1):c.1254C>T (p.Asp418=) rs368594049 0.00117
NM_001379500.1(COL18A1):c.2388C>T (p.Tyr796=) rs139122081 0.00010
NM_001379500.1(COL18A1):c.1158C>G (p.Pro386=) rs533684137
NM_001379500.1(COL18A1):c.1312-37G>A rs9979845
NM_001379500.1(COL18A1):c.1399-48C>G rs2236466
NM_001379500.1(COL18A1):c.1834-23C>A rs73370824
NM_001379500.1(COL18A1):c.2214+35_2214+36insCCACTGCCCTCCCG rs11267376
NM_001379500.1(COL18A1):c.2577+37del rs397867048
NM_001379500.1(COL18A1):c.837C>A (p.Pro279=) rs2230687
NM_001379500.1(COL18A1):c.837C>G (p.Pro279=) rs2230687

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