ClinVar Miner

List of variants reported as pathogenic for Usher syndrome type 2 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_206933.4(USH2A):c.2167+5G>A rs771583281 0.00009
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762 0.00004
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_206933.4(USH2A):c.8559-2A>G rs397518039 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter) rs747622607 0.00002
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter) rs373780305 0.00001
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter) rs1358947010 0.00001
NM_206933.4(USH2A):c.12067-2A>G rs397517978 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.1841-2A>G rs397518003 0.00001
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437 0.00001
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724 0.00001
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter) rs749452910 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_007123.6(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_015404.4(WHRN):c.856dup (p.Asp286fs) rs1064794551
NM_206933.4(USH2A):c.11411del (p.Pro3804fs) rs397517973
NM_206933.4(USH2A):c.1144-2A>T rs2037686445
NM_206933.4(USH2A):c.14031dup (p.Ala4678fs) rs397517988
NM_206933.4(USH2A):c.1679del (p.Pro560fs) rs773539640
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.4(USH2A):c.1824dup (p.Glu609Ter) rs2037013894
NM_206933.4(USH2A):c.2168-2A>G rs993185407
NM_206933.4(USH2A):c.2431_2432del (p.Lys811fs) rs2102545818
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter) rs756623509
NM_206933.4(USH2A):c.4046del (p.Ser1349fs) rs2034899784
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048

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