List of variants studied for Usher syndrome type 2A by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_206933.4(USH2A):c.2299del (p.Glu767fs)	rs80338903	0.00055
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	rs199605265	0.00046
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)	rs201709513	0.00019
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del)	rs771903291	0.00004
NM_206933.4(USH2A):c.8682-9A>G	rs372347027	0.00004
NM_206933.4(USH2A):c.1841-377A>G
NM_206933.4(USH2A):c.4409del (p.Leu1470fs)
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)	rs769838859
NM_206933.4(USH2A):c.6845T>G (p.Leu2282Ter)	rs2102458475
NM_206933.4(USH2A):c.8141G>A (p.Trp2714Ter)
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)	rs1553250952
NM_206933.4(USH2A):c.920_923dup (p.His308fs)	rs397518043
NM_206933.4(USH2A):c.9519_9520delinsAA (p.Cys3173_Gln3174delinsTer)	rs2102796345
NM_206933.4(USH2A):c.993_994del (p.Arg331fs)	rs1571703801

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