List of variants studied for Usher syndrome type 2A by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)	rs41302239	0.00081
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)	rs115403785	0.00058
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro)	rs143275144	0.00031
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val)	rs138326802	0.00026
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	rs111033364	0.00012
NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser)	rs150060240	0.00010
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser)	rs370155266	0.00006
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del)	rs771903291	0.00004
NM_206933.4(USH2A):c.949C>A (p.Arg317=)	rs111033272	0.00003
NM_206933.4(USH2A):c.11714G>A (p.Arg3905His)	rs201709470	0.00002
NM_206933.4(USH2A):c.3713C>T (p.Thr1238Ile)	rs768461447	0.00001
NM_206933.4(USH2A):c.4040G>A (p.Ser1347Asn)	rs760233343	0.00001
NM_206933.4(USH2A):c.6668G>A (p.Gly2223Asp)	rs755612537	0.00001
NM_206933.4(USH2A):c.6805+195T>G	rs1193295201	0.00001
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs)	rs141672841	0.00001
NM_206933.4(USH2A):c.11549-1G>A	rs878853407
NM_206933.4(USH2A):c.11549del	rs1660304704
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp)	rs775556188
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)	rs1553252388
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu)	rs139474806
NM_206933.4(USH2A):c.13599_13612del (p.Gly4534fs)	rs1657920193
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)	rs397517990
NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn)	rs776323626
NM_206933.4(USH2A):c.6722C>A (p.Pro2241His)	rs1057518826
NM_206933.4(USH2A):c.7524del (p.Arg2509fs)	rs751176116

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