List of variants reported as likely benign for Knobloch syndrome

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn)	rs12483377	0.06693
NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=)	rs11544970	0.02268
NM_001379500.1(COL18A1):c.*302C>A	rs17255281	0.00666
NM_001379500.1(COL18A1):c.*849A>T	rs17255379	0.00666
NM_001379500.1(COL18A1):c.2379+7C>T	rs202100967	0.00379
NM_001379500.1(COL18A1):c.1675-6G>A	rs142726108	0.00263
NM_001379500.1(COL18A1):c.496G>A (p.Ala166Thr)	rs144281842	0.00167
NM_001379500.1(COL18A1):c.*532T>C	rs560265269	0.00163
NM_001379500.1(COL18A1):c.2790C>T (p.Gly930=)	rs564134000	0.00079
NM_001379500.1(COL18A1):c.2328G>A (p.Leu776=)	rs537203447	0.00053
NM_001379500.1(COL18A1):c.604G>A (p.Gly202Arg)	rs373735265	0.00026
NM_001379500.1(COL18A1):c.2694G>A (p.Pro898=)	rs190374248	0.00025
NM_001379500.1(COL18A1):c.1155C>T (p.Val385=)	rs761020121	0.00021
NM_001379500.1(COL18A1):c.3682G>A (p.Val1228Ile)	rs750065884	0.00002
NM_001379500.1(COL18A1):c.1221+20dup	rs200362222
NM_001379500.1(COL18A1):c.2823C>A (p.Pro941=)	rs543392161
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3])	rs78227997
NM_001379500.1(COL18A1):c.2829_2846del (p.938PGP[2])	rs78227997
NM_001379500.1(COL18A1):c.2832A>C (p.Pro944=)	rs751825604
NM_001379500.1(COL18A1):c.3240A>G (p.Pro1080=)	rs886057130
NM_001379500.1(COL18A1):c.3690C>T (p.Leu1230=)	rs886057134
NM_001379500.1(COL18A1):c.3787G>A (p.Asp1263Asn)	rs886057136
NM_001379500.1(COL18A1):c.3832G>T (p.Gly1278Cys)	rs886057137
NM_001379500.1(COL18A1):c.780G>C (p.Glu260Asp)	rs560442019

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