ClinVar Miner

List of variants reported as pathogenic for Usher syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_000260.3(MYO7A):c.1969C>T rs878853236
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) rs111033180
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) rs750647872
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) rs766641715
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270
NM_022124.6(CDH23):c.6050-9G>A rs367928692
NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter) rs747622607
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter) rs373780305
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762
NM_033056.4(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) rs121908370
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.2167+5G>A rs771583281
NM_206933.3(USH2A):c.2168-2A>G rs993185407
NM_206933.3(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724
NM_206933.3(USH2A):c.8557A>T (p.Arg2853Ter) rs749452910
NM_206933.3(USH2A):c.9469C>T (p.Gln3157Ter) rs772100045
NM_206933.4(USH2A):c.12067-2A>G rs397517978
NM_206933.4(USH2A):c.1841-2A>G rs397518003
NM_206933.4(USH2A):c.8559-2A>G rs397518039
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272

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