ClinVar Miner

List of variants reported as pathogenic for Usher syndrome by Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NC_000001.11:g.(215728385_215741374)_(215759844_215766680)dup
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) rs782077721
NM_000260.4(MYO7A):c.4996_4997del (p.Ser1666fs)
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
NM_001195794.1(CLRN1):c.118T>G (p.Cys40Gly) rs121908143
NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) rs111033258
NM_001195794.1(CLRN1):c.65T>A (p.Leu22His)
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_032119.4(ADGRV1):c.13232-1G>A
NM_032119.4(ADGRV1):c.6962_6963del (p.Val2321fs)
NM_032119.4(ADGRV1):c.9748+2T>C
NM_033056.4(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301
NM_033056.4(PCDH15):c.2971C>T (p.Arg991Ter) rs754391973
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter) rs201866631
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.1859G>T (p.Cys620Phe) rs758571672
NM_206933.3(USH2A):c.3158-2A>G rs878853404
NM_206933.3(USH2A):c.4474G>T (p.Glu1492Ter) rs869312179
NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.3(USH2A):c.6862G>T (p.Glu2288Ter) rs398124619
NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys)
NM_206933.4(USH2A):c.12067-1G>A
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) rs111033334
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter) rs199679165
NM_206933.4(USH2A):c.5776+1G>A rs876657731
NM_206933.4(USH2A):c.6657+1G>A
NM_206933.4(USH2A):c.9371+1G>C rs41308425

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