ClinVar Miner

List of variants in gene USH2A reported as likely pathogenic by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_007123.5(USH2A):c.3812-3_3837dup rs780071028
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.10859T>C (p.Ile3620Thr) rs779716464
NM_206933.3(USH2A):c.12284G>A (p.Gly4095Asp) rs759898765
NM_206933.3(USH2A):c.15017C>T (p.Thr5006Met) rs757676723
NM_206933.4(USH2A):c.15297+1G>C

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