ClinVar Miner

List of variants reported as uncertain significance for Ochoa syndrome

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_021828.5(HPSE2):c.419C>G (p.Pro140Arg)	rs967685128	0.00001
NM_021828.5:c.(1099-?_1320+1)[3]
NM_021828.5:c.(610+1_611-1)_(784+1_785-1)del

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