ClinVar Miner

List of variants studied for Usher syndrome by Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000409.4(GUCA1A):c.149C>T (p.Pro50Leu) rs104893968
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_206933.2(USH2A):c.(1971+1_1972-1)_(2993+1_2994-1)dup
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264

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