ClinVar Miner

List of variants in gene USH2A studied for Short stature; Cognitive impairment; High palate; Distal arthrogryposis; Anxiety; Brisk reflexes; Dysautonomia; Abnormality of the upper limb; Multiple joint contractures; Dislocated radial head; Abnormality of upper limb joint; Chronic pain; Abnormal morphology of bones of the upper limbs

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Total variants: 2
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NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_206933.3(USH2A):c.5003G>T (p.Gly1668Val) rs1265349835

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