List of variants reported as pathogenic for Knobloch syndrome by OMIM

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn)	rs12483377	0.06693
COL18A1, 2-BP DEL	rs398122391	0.00029
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs)	rs398122391	0.00029
NM_001379500.1(COL18A1):c.12-2A>T	rs1467976097	0.00003
COL18A1, 2-BP DEL, 3617CT
NM_001379500.1(COL18A1):c.2118dup (p.Gly707fs)	rs775168204
NM_001379500.1(COL18A1):c.268del (p.Arg90fs)	rs2035293928
NM_001379500.1(COL18A1):c.2823dup (p.Gly942fs)	rs769882681
NM_001379500.1(COL18A1):c.3013+3A>C	rs770631950
NM_001379500.1(COL18A1):c.589del (p.Leu197fs)	rs2035305918
NM_002577.4(PAK2):c.1303G>A (p.Glu435Lys)	rs2108773003

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