ClinVar Miner

List of variants in gene COL18A1 reported as likely pathogenic

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Gene type:
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.928+2T>C rs907713687 0.00007
NM_001379500.1(COL18A1):c.929-2A>G rs765919785 0.00003
NM_001379500.1(COL18A1):c.1311+2T>A rs2035835799 0.00001
NM_001379500.1(COL18A1):c.1897-2A>G rs778612831 0.00001
NM_001379500.1(COL18A1):c.1959+1G>A rs2036225419 0.00001
NM_001379500.1(COL18A1):c.2338C>T (p.Gln780Ter) rs786205554 0.00001
NM_001379500.1(COL18A1):c.2621-2A>G rs1239178537 0.00001
GRCh37/hg19 21q22.3(chr21:46797010-46915065)x1
NC_000021.8:g.(?_46875445)_(46893915_?)dup
NC_000021.8:g.(?_46875445)_(46897899_?)dup
NC_000021.8:g.(?_46925761)_(46927915_?)del
NM_001379500.1(COL18A1):c.107-11987C>A rs757523045
NM_001379500.1(COL18A1):c.107-1G>T
NM_001379500.1(COL18A1):c.1248+1G>A rs2035758739
NM_001379500.1(COL18A1):c.1335_1336dup (p.Gly446fs) rs2145934671
NM_001379500.1(COL18A1):c.1452+1G>T
NM_001379500.1(COL18A1):c.1593del (p.Pro534fs) rs778909108
NM_001379500.1(COL18A1):c.1613G>T (p.Gly538Val) rs1114167359
NM_001379500.1(COL18A1):c.1834-1G>A
NM_001379500.1(COL18A1):c.1876C>T (p.Arg626Ter) rs753935209
NM_001379500.1(COL18A1):c.1959+1G>T
NM_001379500.1(COL18A1):c.1983_1990del (p.Gly663fs)
NM_001379500.1(COL18A1):c.2032-1G>A
NM_001379500.1(COL18A1):c.2068-1G>A
NM_001379500.1(COL18A1):c.2157+1G>A
NM_001379500.1(COL18A1):c.2188-1G>T
NM_001379500.1(COL18A1):c.2214+1G>A rs151228115
NM_001379500.1(COL18A1):c.2214+1G>C
NM_001379500.1(COL18A1):c.2214+1_2214+10del rs2145991515
NM_001379500.1(COL18A1):c.2277+1G>A
NM_001379500.1(COL18A1):c.2352+2T>C
NM_001379500.1(COL18A1):c.2368C>T (p.Arg790Ter) rs1555870809
NM_001379500.1(COL18A1):c.2577+1G>A
NM_001379500.1(COL18A1):c.2578-1G>T
NM_001379500.1(COL18A1):c.2673del (p.Gly892fs) rs749009747
NM_001379500.1(COL18A1):c.619C>T (p.Gln207Ter)
NM_001379500.1(COL18A1):c.651+1G>A
NM_001379500.1(COL18A1):c.651+2T>C
NM_001379500.1(COL18A1):c.688dup (p.Gln230fs) rs756223600
NM_001379500.1(COL18A1):c.798+1G>T
NM_001379500.1(COL18A1):c.992dup (p.Arg332fs) rs2035718735
Single allele

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