List of variants reported as pathogenic for Usher syndrome type 2A by Mendelics

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	rs201527662	0.00006
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)	rs754768875	0.00003
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe)	rs727504654	0.00003
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)	rs758303489	0.00002
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)	rs202175091	0.00001
NM_206933.4(USH2A):c.5278del (p.Asp1760fs)	rs754374132	0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)	rs764182950	0.00001
NM_206933.4(USH2A):c.11095G>T (p.Glu3699Ter)	rs755804518
NM_206933.4(USH2A):c.11389+1G>A	rs368770647
NM_206933.4(USH2A):c.1312_1327dup (p.Asn443fs)	rs1415157305
NM_206933.4(USH2A):c.1829A>C (p.His610Pro)	rs1571668556
NM_206933.4(USH2A):c.2534del (p.Leu845fs)	rs1572088481
NM_206933.4(USH2A):c.2809+1G>A	rs759433119
NM_206933.4(USH2A):c.401_402delinsA (p.Ser134fs)
NM_206933.4(USH2A):c.4603dup (p.His1535fs)	rs1572020896
NM_206933.4(USH2A):c.5737G>T (p.Glu1913Ter)	rs762837293
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)	rs1571783742
NM_206933.4(USH2A):c.9827C>A (p.Ser3276Ter)	rs863224941
NM_206933.4(USH2A):c.999_1000dup (p.Arg334fs)	rs1571703770

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