ClinVar Miner

List of variants in gene BNAT1, COL18A1 studied for Knobloch syndrome

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NC_000021.9:g.45405463C>T rs772492972 0.00019
NM_001379500.1(COL18A1):c.12-2A>T rs1467976097 0.00003
NC_000021.9:g.45405398C>T rs754075778 0.00002
NC_000021.9:g.45405396C>T rs2033062909 0.00001
NC_000021.9:g.45405193A>C rs1449766997
NC_000021.9:g.45405204C>G rs1220724564
NC_000021.9:g.45405393G>T rs780315428
NM_001379500.1(COL18A1):c.-2G>A rs1321675148

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