List of variants reported as pathogenic for Usher syndrome by National Institute on Deafness and Communication Disorders, National Institutes of Health

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001384140.1(PCDH15):c.92-528C>T	rs190773725	0.00001
NM_001384140.1(PCDH15):c.3667_3668del (p.Ile1223fs)	rs2079481708
NM_032119.4(ADGRV1):c.11772del (p.Ile3925fs)	rs1755899012
NM_032119.4(ADGRV1):c.14639_14640del (p.Val4879_Ser4880insTer)	rs780664266
NM_032119.4(ADGRV1):c.1626A>T (p.Thr542=)	rs1765197280
NM_032119.4(ADGRV1):c.955_958dup (p.Leu320fs)	rs1764920338
NM_174878.3(CLRN1):c.254-2A>G	rs1713861377
NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter)	rs376155416
NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs)	rs1657929865
NM_206933.4(USH2A):c.14649del (p.Ile4883fs)	rs1656901821
NM_206933.4(USH2A):c.2168-2A>G	rs993185407
NM_206933.4(USH2A):c.3841A>T (p.Arg1281Ter)	rs2034908088
NM_206933.4(USH2A):c.4133_4134dup (p.Asn1379fs)	rs397518015
NM_206933.4(USH2A):c.4396+2T>G	rs2034687381

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