ClinVar Miner

List of variants in gene COL18A1 reported as pathogenic for not provided

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Gene type:
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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.929-2A>G rs765919785 0.00003
NM_001379500.1(COL18A1):c.1187_1200dup (p.Pro401fs) rs768663340 0.00001
NM_001379500.1(COL18A1):c.1459C>T (p.Arg487Ter) rs768055690 0.00001
NM_001379500.1(COL18A1):c.2338C>T (p.Gln780Ter) rs786205554 0.00001
NM_001379500.1(COL18A1):c.2666_2667insT (p.Gly892fs) rs1568930288 0.00001
NM_001379500.1(COL18A1):c.394del (p.His132fs) rs1568893029 0.00001
NC_000021.8:g.(?_46825146)_(46825408_?)del
NC_000021.8:g.(?_46825146)_(46917595_?)del
NC_000021.8:g.(?_46888136)_(46898287_?)del
NC_000021.9:g.45490838del rs2036312031
NM_001379500.1(COL18A1):c.1070del (p.Pro357fs) rs1555860555
NM_001379500.1(COL18A1):c.1080_1081dup (p.Cys361fs)
NM_001379500.1(COL18A1):c.1110C>A (p.Cys370Ter)
NM_001379500.1(COL18A1):c.1147C>T (p.Gln383Ter)
NM_001379500.1(COL18A1):c.1158del (p.Gly387fs) rs1438060081
NM_001379500.1(COL18A1):c.1203del (p.Gly402fs)
NM_001379500.1(COL18A1):c.1264C>T (p.Gln422Ter)
NM_001379500.1(COL18A1):c.1274_1283del (p.Pro425fs) rs776238441
NM_001379500.1(COL18A1):c.1467_1470del (p.Phe489fs)
NM_001379500.1(COL18A1):c.1488del (p.Gly497fs) rs2145937523
NM_001379500.1(COL18A1):c.1593del (p.Pro534fs) rs778909108
NM_001379500.1(COL18A1):c.1633A>T (p.Arg545Ter)
NM_001379500.1(COL18A1):c.1718_1719dup (p.Gly574fs)
NM_001379500.1(COL18A1):c.1765G>T (p.Gly589Ter)
NM_001379500.1(COL18A1):c.1790dup (p.Gly598fs) rs1230407213
NM_001379500.1(COL18A1):c.1856_1857dup (p.Pro620fs)
NM_001379500.1(COL18A1):c.1857dup (p.Pro620fs)
NM_001379500.1(COL18A1):c.1924-2_1924del rs2145974543
NM_001379500.1(COL18A1):c.1954del (p.Ala652fs)
NM_001379500.1(COL18A1):c.2056del (p.Arg686fs) rs886043809
NM_001379500.1(COL18A1):c.2060del (p.Gly687fs)
NM_001379500.1(COL18A1):c.2102dup (p.Leu702fs) rs2145984908
NM_001379500.1(COL18A1):c.2111del (p.Gly704fs) rs1834684241
NM_001379500.1(COL18A1):c.2117_2118insG (p.Gly707fs)
NM_001379500.1(COL18A1):c.2118_2119dup (p.Gly707fs)
NM_001379500.1(COL18A1):c.2118del (p.Gly707fs) rs775168204
NM_001379500.1(COL18A1):c.2118dup (p.Gly707fs) rs775168204
NM_001379500.1(COL18A1):c.2152C>T (p.Gln718Ter)
NM_001379500.1(COL18A1):c.2193del (p.Pro732fs)
NM_001379500.1(COL18A1):c.2257C>T (p.Arg753Ter) rs1280809356
NM_001379500.1(COL18A1):c.2273_2277del (p.Pro758fs)
NM_001379500.1(COL18A1):c.2324_2327del (p.Ala775fs)
NM_001379500.1(COL18A1):c.2347_2350del (p.Ala783fs)
NM_001379500.1(COL18A1):c.2368C>T (p.Arg790Ter) rs1555870809
NM_001379500.1(COL18A1):c.2518_2521dup (p.Pro841fs)
NM_001379500.1(COL18A1):c.2525del (p.Pro842fs) rs2146009153
NM_001379500.1(COL18A1):c.2553del (p.Thr853fs)
NM_001379500.1(COL18A1):c.2558dup (p.Pro854fs) rs760707447
NM_001379500.1(COL18A1):c.2669_2670insT (p.Gly892fs) rs2146015551
NM_001379500.1(COL18A1):c.2673_2674insT (p.Gly892fs)
NM_001379500.1(COL18A1):c.2673del (p.Gly892fs) rs749009747
NM_001379500.1(COL18A1):c.2673dup (p.Gly892fs) rs749009747
NM_001379500.1(COL18A1):c.268del (p.Arg90fs) rs2035293928
NM_001379500.1(COL18A1):c.367del (p.Gly122_Val123insTer) rs2145890527
NM_001379500.1(COL18A1):c.481C>T (p.Gln161Ter) rs2145890906
NM_001379500.1(COL18A1):c.512del (p.Gly171fs) rs2145891005
NM_001379500.1(COL18A1):c.629dup (p.Ala211fs)
NM_001379500.1(COL18A1):c.688dup (p.Gln230fs) rs756223600
NM_001379500.1(COL18A1):c.755del (p.Gly252fs)
NM_001379500.1(COL18A1):c.837dup (p.Val280fs) rs760175310
NM_001379500.1(COL18A1):c.838dup (p.Val280fs)
NM_001379500.1(COL18A1):c.892G>T (p.Glu298Ter) rs2145919390
NM_001379500.1(COL18A1):c.941del (p.Pro314fs)
NM_001379500.1(COL18A1):c.992dup (p.Arg332fs) rs2035718735

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