ClinVar Miner

List of variants in gene COL18A1 reported as likely benign by Illumina Laboratory Services, Illumina

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.2379+7C>T rs202100967 0.00379
NM_001379500.1(COL18A1):c.1675-6G>A rs142726108 0.00263
NM_001379500.1(COL18A1):c.496G>A (p.Ala166Thr) rs144281842 0.00167
NM_001379500.1(COL18A1):c.2328G>A (p.Leu776=) rs537203447 0.00053
NM_001379500.1(COL18A1):c.604G>A (p.Gly202Arg) rs373735265 0.00026
NM_001379500.1(COL18A1):c.1155C>T (p.Val385=) rs761020121 0.00021
NM_001379500.1(COL18A1):c.1221+20dup rs200362222
NM_001379500.1(COL18A1):c.780G>C (p.Glu260Asp) rs560442019

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