ClinVar Miner

List of variants reported as pathogenic for Usher syndrome by Sharon lab,Hadassah-Hebrew University Medical Center

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP
NM_000260.4(MYO7A):c.1134_1146dup (p.Ser383fs) rs1591286671
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587
NM_000260.4(MYO7A):c.2187+1G>A rs111033290
NM_000260.4(MYO7A):c.2187+1G>T rs111033290
NM_000260.4(MYO7A):c.2307del (p.Asn769fs) rs1060499800
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635
NM_000260.4(MYO7A):c.5069_5070insC (p.Gln1690fs) rs1591470904
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter) rs878864531
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) rs1060499801
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter) rs41298133
NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) rs111033258
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter) rs749314857
NM_014960.5(ARSG):c.133G>T (p.Asp45Tyr) rs1568445893
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter) rs750027965
NM_032119.4(ADGRV1):c.12125del (p.Met4042fs) rs1581041519
NM_032119.4(ADGRV1):c.14973-2A>G rs371981035
NM_032119.4(ADGRV1):c.15494del (p.Lys5165fs) rs1581196586
NM_032119.4(ADGRV1):c.9679C>T (p.Arg3227Ter) rs267600727
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_052995.2(CLRN1):c.121_130del (p.Ala41fs) rs1576631624
NM_052995.2(CLRN1):c.205+1G>A rs201205811
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) rs121908140
NM_153676.4(USH1C):c.497-2del rs1480243085
NM_173477.5(USH1G):c.205dup (p.Leu69fs) rs1598584825
NM_206933.3(USH2A):c.1001G>A (p.Arg334Gln) rs758303489
NM_206933.3(USH2A):c.14424C>A (p.Cys4808Ter) rs1553250184
NM_206933.3(USH2A):c.236_239dup (p.Gln81fs) rs1553258097
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.8558+1G>T rs770383273
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) rs397517963
NM_206933.4(USH2A):c.10211del (p.Pro3404fs) rs1571686349
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.12067-2A>G rs397517978
NM_206933.4(USH2A):c.12114del (p.Tyr4039fs) rs1571953449
NM_206933.4(USH2A):c.14023A>T (p.Arg4675Ter) rs1571945476
NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg) rs768436928
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) rs111033334
NM_206933.4(USH2A):c.5519G>T (p.Gly1840Val) rs1571941511
NM_206933.4(USH2A):c.5776+1G>A rs876657731
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048

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