ClinVar Miner

List of variants studied for Usher syndrome type 1 by SIB Swiss Institute of Bioinformatics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser)	rs1052030	0.47208
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys)	rs77625410	0.04825
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met)	rs41298747	0.00512

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