List of variants studied for Usher syndrome; Rare genetic deafness by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.2299del (p.Glu767fs)	rs80338903	0.00055
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	rs111033364	0.00012
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)	rs767078782	0.00001
NM_206933.4(USH2A):c.8681+1G>A	rs876657733	0.00001
NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro)	rs577938494
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)	rs397518048

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