ClinVar Miner

List of variants in gene COL18A1 reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.1920T>C (p.Leu640=) rs11702425 0.32196
NM_001379500.1(COL18A1):c.1224C>G (p.Gly408=) rs13046486 0.09402
NM_001379500.1(COL18A1):c.2340G>C (p.Gln780His) rs2230693 0.03222
NM_001379500.1(COL18A1):c.107-12197G>A rs200284308 0.00063
NM_001379500.1(COL18A1):c.2388C>T (p.Tyr796=) rs139122081 0.00010
NM_001379500.1(COL18A1):c.107-12195G>A rs62000960
NM_001379500.1(COL18A1):c.1158C>G (p.Pro386=) rs533684137
NM_001379500.1(COL18A1):c.2673dup (p.Gly892fs) rs749009747

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