ClinVar Miner

List of variants in gene COL18A1 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.241C>T (p.Arg81Trp) rs76658745 0.01115
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.1390G>A (p.Asp464Asn) rs61738822 0.00478
NM_001379500.1(COL18A1):c.667C>T (p.Leu223=) rs60162212 0.00449
NM_001379500.1(COL18A1):c.928+2T>C rs907713687 0.00007
NM_001379500.1(COL18A1):c.1596G>T (p.Gly532=) rs767408595 0.00004
NG_011903.1:g.104329_104337del rs2124375890
NM_001379500.1(COL18A1):c.2118dup (p.Gly707fs) rs775168204
NM_001379500.1(COL18A1):c.352A>C (p.Met118Leu) rs200702024
NM_001379500.1(COL18A1):c.837C>A (p.Pro279=) rs2230687

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