List of variants studied for Usher syndrome type 1 by Pars Genome Lab

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001384140.1(PCDH15):c.546A>G (p.Gly182=)	rs34164469	0.01517
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=)	rs111033516	0.00401
NM_153676.4(USH1C):c.403G>A (p.Val135Ile)	rs145013633	0.00234
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=)	rs143136329	0.00226
NM_022124.6(CDH23):c.510C>T (p.Ser170=)	rs143341423	0.00096
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala)	rs145017164	0.00081
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)	rs200641606	0.00073
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)	rs111033363	0.00054
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile)	rs146199636	0.00013
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile)	rs397517321	0.00006
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val)	rs111033511	0.00003
NM_000260.4(MYO7A):c.6236G>A (p.Arg2079Gln)	rs765083332	0.00003
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp)	rs368496658	0.00003
NM_000260.4(MYO7A):c.4207G>T (p.Glu1403Ter)	rs916332384

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