ClinVar Miner

List of variants reported as pathogenic for Usher syndrome type 2 by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_007123.5(USH2A):c.2279_2280del (p.Asn760fs) rs1553320542
NM_007123.5(USH2A):c.3435del (p.Val1147fs) rs397518012
NM_032119.4(ADGRV1):c.11122-1G>C rs1561660434
NM_032119.4(ADGRV1):c.7606G>T (p.Glu2536Ter) rs886039893
NM_206933.3(USH2A):c.11174del (p.Phe3725fs) rs1571657875
NM_206933.3(USH2A):c.9372-1G>A rs1558111861

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