ClinVar Miner

List of variants reported as uncertain significance for Short stature; Cognitive impairment; High palate; Distal arthrogryposis; Anxiety; Brisk reflexes; Abnormal autonomic nervous system physiology; Abnormality of the upper limb; Multiple joint contractures; Dislocated radial head; Abnormality of upper limb joint; Chronic pain; Abnormal upper limb bone morphology by Center for Personalized Medicine, Children's Hospital Los Angeles

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002472.3(MYH8):c.5743A>G (p.Ile1915Val)	rs1216879928	0.00001
NM_206933.4(USH2A):c.5003G>T (p.Gly1668Val)	rs1265349835	0.00001

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