List of variants studied for Knobloch syndrome 1 by Genome-Nilou Lab

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Total variants: 11

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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.*16G>A	rs7499	0.41352
NM_001379500.1(COL18A1):c.107-12073A>G	rs2236451	0.39262
NM_001379500.1(COL18A1):c.1920T>C (p.Leu640=)	rs11702425	0.32196
NM_001379500.1(COL18A1):c.107-11850G>A	rs11702494	0.23796
NM_001379500.1(COL18A1):c.1674+34A>C	rs12482088	0.23085
NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg)	rs79980197	0.07777
NM_001379500.1(COL18A1):c.1312-37G>A	rs9979845
NM_001379500.1(COL18A1):c.2577+37del	rs397867048
NM_001379500.1(COL18A1):c.2824_2837= (p.Gly942_Pro946=)

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