ClinVar Miner

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

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_001195794.1(CLRN1):c.209G>A (p.Gly70Asp) rs1559996059
NM_015404.4(WHRN):c.164G>C (p.Arg55Pro)
NM_032119.4(ADGRV1):c.10727A>G (p.Tyr3576Cys)
NM_032119.4(ADGRV1):c.15353G>A (p.Ser5118Asn) rs756275299
NM_032119.4(ADGRV1):c.3203G>A (p.Arg1068Lys) rs202151375
NM_206933.3(USH2A):c.5516T>A (p.Val1839Glu) rs886039867

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