ClinVar Miner

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

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) rs121908140 0.00089
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_174878.3(CLRN1):c.148_149insTGTC (p.Ser50fs) rs762606406 0.00014
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
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_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966 0.00006
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
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_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329 0.00004
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762 0.00004
NM_033056.4(PCDH15):c.4644_4689dup (p.Arg1564delinsCysArgProIlePheThrGlnAsnThrSerGlnGluTer) rs751539473 0.00004
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) rs750647872 0.00003
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_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter) rs750027965 0.00002
NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter) rs747622607 0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) rs111033180 0.00001
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201 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.5581C>T (p.Arg1861Ter) rs878864531 0.00001
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) rs111033198 0.00001
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354 0.00001
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter) rs373780305 0.00001
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) rs121908370 0.00001
NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter) rs373208120 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_000260.4(MYO7A):c.1969C>T (p.Arg657Trp) rs878853236
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.462C>A (p.Cys154Ter) rs1952434877
NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter) rs111033477
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_015404.4(WHRN):c.856dup (p.Asp286fs) rs1064794551
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.496+1G>T rs138138689
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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