List of variants reported as pathogenic for Usher syndrome by Counsyl

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 89

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HGVS	dbSNP	gnomAD frequency
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)	rs111033260	0.00012
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)	rs121912600	0.00008
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter)	rs121965085	0.00004
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)	rs111033214	0.00004
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter)	rs41298133	0.00004
NM_206933.4(USH2A):c.7595-2144A>G	rs786200928	0.00004
NM_000260.4(MYO7A):c.6439-2A>G	rs397516330	0.00003
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)	rs111033273	0.00003
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)	rs754768875	0.00003
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter)	rs398124619	0.00003
NM_206933.4(USH2A):c.7595-3C>G	rs201657446	0.00003
NM_206933.4(USH2A):c.9571-2A>G	rs751111524	0.00003
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter)	rs111033192	0.00002
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter)	rs397517979	0.00002
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter)	rs765476745	0.00002
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)	rs199679165	0.00002
NM_000260.4(MYO7A):c.133-2A>G	rs782064437	0.00001
NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter)	rs1279918132	0.00001
NM_000260.4(MYO7A):c.3504-1G>C	rs1555090171	0.00001
NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter)	rs782694195	0.00001
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter)	rs766641715	0.00001
NM_000260.4(MYO7A):c.470+1G>A	rs797044510	0.00001
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs)	rs1199012623	0.00001
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter)	rs878864531	0.00001
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)	rs111033198	0.00001
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)	rs111033267	0.00001
NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter)	rs373208120	0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)	rs202175091	0.00001
NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter)	rs1057519193	0.00001
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)	rs111033385	0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)	rs753330544	0.00001
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)	rs146733615	0.00001
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)	rs397517994	0.00001
NM_206933.4(USH2A):c.187C>T (p.Arg63Ter)	rs781223647	0.00001
NM_206933.4(USH2A):c.2168-1G>C	rs748961218	0.00001
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)	rs767078782	0.00001
NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter)	rs1394737087	0.00001
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter)	rs397518011	0.00001
NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter)	rs764797292	0.00001
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter)	rs1553299079	0.00001
NM_206933.4(USH2A):c.8167C>T (p.Arg2723Ter)	rs200712760	0.00001
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)	rs1064797134	0.00001
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter)	rs749452910	0.00001
NM_206933.4(USH2A):c.8834G>A (p.Trp2945Ter)	rs760302201	0.00001
NM_206933.4(USH2A):c.9258+1G>A	rs748810737	0.00001
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter)	rs772100045	0.00001
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)	rs111033263	0.00001
NM_000260.4(MYO7A):c.1344-2A>G	rs111033415
NM_000260.4(MYO7A):c.19-2A>G	rs1555051384
NM_000260.4(MYO7A):c.2283-1G>T	rs397516295
NM_000260.4(MYO7A):c.4297del (p.Gln1433fs)	rs1555096223
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter)	rs1555051455
NM_000260.4(MYO7A):c.5632del (p.Ala1877_Leu1878insTer)	rs1299898646
NM_000260.4(MYO7A):c.5886_5889del (p.Phe1962fs)	rs1397834886
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs)	rs397516326
NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter)	rs773945008
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)	rs35689081
NM_005709.4(USH1C):c.1220del (p.Gly407fs)	rs1207247951
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)	rs727503731
NM_153676.4(USH1C):c.496+1G>T	rs138138689
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)	rs772808534
NM_206933.4(USH2A):c.10388-1G>A	rs1553261478
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)	rs111033379
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter)	rs111033418
NM_206933.4(USH2A):c.11549-1G>A	rs878853407
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)	rs779791079
NM_206933.4(USH2A):c.1214del (p.Asn405fs)	rs750228923
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)	rs1362058696
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)	rs397517983
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)	rs746447649
NM_206933.4(USH2A):c.13700del (p.Leu4567fs)	rs1212608410
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter)	rs367674026
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter)	rs747063294
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs)	rs747160949
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter)	rs868562952
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)	rs1553258097
NM_206933.4(USH2A):c.2898del (p.Thr967fs)	rs397518008
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)	rs886039450
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter)	rs756623509
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)	rs746551311
NM_206933.4(USH2A):c.545_546del (p.Lys182fs)	rs780779563
NM_206933.4(USH2A):c.7524del (p.Arg2509fs)	rs751176116
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs)	rs886041502
NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter)	rs1553273330
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter)	rs397518036
NM_206933.4(USH2A):c.852_853del	rs1188025733
NM_206933.4(USH2A):c.920_923dup (p.His308fs)	rs397518043
NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter)	rs779572631
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter)	rs73090721

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