ClinVar Miner

List of variants in gene combination COL18A1, SLC19A1 reported as benign by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.3447G>A (p.Ala1149=) rs1050351 0.43308
NM_001379500.1(COL18A1):c.*16G>A rs7499 0.41352
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3]) rs78227997
NM_001379500.1(COL18A1):c.3495+14del rs3835286

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