List of variants studied for Usher syndrome type 2A by MGZ Medical Genetics Center

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Total variants: 7

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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.11864G>A (p.Trp3955Ter)	rs111033364	0.00012
NM_206933.4(USH2A):c.14957C>T (p.Thr4986Met)	rs375429745	0.00006
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)	rs397518026	0.00001
NM_206933.4(USH2A):c.12889T>C (p.Ser4297Pro)	rs1553252463
NM_206933.4(USH2A):c.14225_14232dup (p.Val4745fs)	rs1657036615
NM_206933.4(USH2A):c.3158-1G>T

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