ClinVar Miner

List of variants in gene combination COL18A1, SLC19A1 reported as benign by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Total variants: 9
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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.3231A>G (p.Thr1077=) rs12483761 0.14219
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn) rs12483377 0.06693
NM_001379500.1(COL18A1):c.3681C>T (p.Ile1227=) rs2838952 0.02704
NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=) rs11544970 0.02268
NM_001379500.1(COL18A1):c.3810-20C>T rs117866003 0.00234
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3]) rs78227997
NM_001379500.1(COL18A1):c.3495+14del rs3835286
NM_001379500.1(COL18A1):c.3694-20AC[4] rs58188320

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