ClinVar Miner

List of variants reported as pathogenic for Usher syndrome by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) rs111033258
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_001195794.1(CLRN1):c.189C>A (p.Tyr63Ter) rs111033267
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_033056.4(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301
NM_033056.4(PCDH15):c.2971C>T (p.Arg991Ter) rs754391973
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_033056.4(PCDH15):c.7C>T (p.Arg3Ter) rs137853001
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) rs121908140
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041

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