List of variants reported as likely pathogenic for Usher syndrome type 2A by 3billion

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	rs199605265	0.00046
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)	rs111033263	0.00001
NM_206933.4(USH2A):c.14288G>A (p.Gly4763Glu)	rs781195579
NM_206933.4(USH2A):c.14489C>A (p.Ser4830Ter)
NM_206933.4(USH2A):c.4858C>T (p.Gln1620Ter)	rs746900872
NM_206933.4(USH2A):c.486-2A>C
NM_206933.4(USH2A):c.7506del (p.Tyr2503fs)

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