List of variants in gene combination COL18A1, SLC19A1 reported as pathogenic for Knobloch syndrome 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs)	rs398122391	0.00029
NM_001379500.1(COL18A1):c.2743C>T (p.Arg915Ter)	rs753824908	0.00001
NM_001379500.1(COL18A1):c.3044_3062del (p.Pro1015fs)	rs1365450066

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