List of variants reported as pathogenic for Usher syndrome type 1F by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)	rs111033260	0.00012
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)	rs137853001	0.00001
NM_001384140.1(PCDH15):c.1088del (p.Leu363fs)	rs199469706
NM_001384140.1(PCDH15):c.1940C>G (p.Ser647Ter)	rs137853004
NM_001384140.1(PCDH15):c.3718-2A>G	rs1307471318
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)	rs113363047

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