ClinVar Miner

List of variants in gene COL18A1 reported by OMIM

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
COL18A1, 2-BP DEL rs398122391 0.00029
NM_001379500.1(COL18A1):c.107-12162G>A rs749957649 0.00002
COL18A1, 2-BP DEL, 3617CT
NM_001379500.1(COL18A1):c.2118dup (p.Gly707fs) rs775168204
NM_001379500.1(COL18A1):c.268del (p.Arg90fs) rs2035293928
NM_001379500.1(COL18A1):c.589del (p.Leu197fs) rs2035305918

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