ClinVar Miner

List of variants reported as pathogenic for Usher syndrome by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.9372-1G>A rs1558111861 0.00001
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_022124.6(CDH23):c.1987-1G>A rs1060499714
NM_022124.6(CDH23):c.6000C>A (p.Tyr2000Ter) rs1564794944
NM_032119.4(ADGRV1):c.11122-1G>C rs1561660434
NM_032119.4(ADGRV1):c.7606G>T (p.Glu2536Ter) rs886039893
NM_206933.4(USH2A):c.11174del (p.Phe3725fs) rs1571657875
NM_206933.4(USH2A):c.2279_2280del (p.Asn760fs) rs1553320542
NM_206933.4(USH2A):c.3435del (p.Val1147fs) rs397518012

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