ClinVar Miner

List of variants reported as pathogenic for Usher syndrome type 1 by Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) rs782077721
NM_000260.4(MYO7A):c.4996_4997del (p.Ser1666fs) rs1591467894
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
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

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