ClinVar Miner

List of variants in gene COL18A1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.2379+7C>T rs202100967 0.00379
NM_001379500.1(COL18A1):c.496G>A (p.Ala166Thr) rs144281842 0.00167
NM_001379500.1(COL18A1):c.107-12541A>G rs200354859 0.00090
NM_001379500.1(COL18A1):c.1905C>T (p.Pro635=) rs199523495 0.00089
NM_001379500.1(COL18A1):c.107-11671G>T rs536492922 0.00068
NM_001379500.1(COL18A1):c.801C>T (p.Gly267=) rs145912433 0.00024
NM_001379500.1(COL18A1):c.1851C>T (p.Ser617=) rs376114537 0.00013
NM_001379500.1(COL18A1):c.1248G>A (p.Pro416=) rs185296216 0.00012
NM_001379500.1(COL18A1):c.2214C>T (p.Pro738=) rs199910738 0.00009
NM_001379500.1(COL18A1):c.107-12193C>T rs1264105776 0.00001
NM_001379500.1(COL18A1):c.107-11502G>A
NM_001379500.1(COL18A1):c.107-11506G>C
NM_001379500.1(COL18A1):c.107-11608C>T
NM_001379500.1(COL18A1):c.107-11979G>A
NM_001379500.1(COL18A1):c.107-12195G>A rs62000960

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