List of variants studied for Usher syndrome type 1D by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001384140.1(PCDH15):c.4671+1355A>G	rs372184022	0.00011
NM_001384140.1(PCDH15):c.5045A>G (p.Asn1682Ser)	rs777886341	0.00001
NM_001384140.1(PCDH15):c.1088del (p.Leu363fs)	rs199469706
NM_001384140.1(PCDH15):c.2148_2155del (p.Phe717fs)	rs2094144598
NM_001384140.1(PCDH15):c.4840A>G (p.Thr1614Ala)	rs775845546
NM_033056.4(PCDH15):c.5152C>T (p.Pro1718Ser)	rs1194313858
NM_033056.4(PCDH15):c.5573_5576dup (p.Lys1859delinsAsnTer)	rs770082088
NM_033056.4(PCDH15):c.5650A>G (p.Arg1884Gly)	rs2076305966

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