ClinVar Miner

List of variants studied for Knobloch syndrome by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.107-12592T>C rs914230 0.96979
NM_001379500.1(COL18A1):c.3447G>A (p.Ala1149=) rs1050351 0.43308
NM_001379500.1(COL18A1):c.1920T>C (p.Leu640=) rs11702425 0.32196
NM_001379500.1(COL18A1):c.3231A>G (p.Thr1077=) rs12483761 0.14219
NM_001379500.1(COL18A1):c.1224C>G (p.Gly408=) rs13046486 0.09402
NM_001379500.1(COL18A1):c.3681C>T (p.Ile1227=) rs2838952 0.02704
NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=) rs11544970 0.02268

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