List of variants studied for inherited vitreoretinopathy by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_004385.5(VCAN):c.9882C>T (p.Val3294=)	rs308365	0.97301
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.1920T>C (p.Leu640=)	rs11702425	0.32196
NM_004385.5(VCAN):c.1283G>A (p.Gly428Asp)	rs2287926	0.16841
NM_001379500.1(COL18A1):c.3231A>G (p.Thr1077=)	rs12483761	0.14219
NM_001379500.1(COL18A1):c.1224C>G (p.Gly408=)	rs13046486	0.09402
NM_001379500.1(COL18A1):c.3681C>T (p.Ile1227=)	rs2838952	0.02704
NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=)	rs11544970	0.02268
NM_004385.5(VCAN):c.7419C>T (p.Ser2473=)	rs61754536	0.00819
NM_004385.5(VCAN):c.1523T>A (p.Ile508Asn)	rs143368552	0.00271

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