List of variants in gene HPSE2 studied for Ochoa syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_021828.5(HPSE2):c.1099-1G>A	rs184270108	0.00002
NM_021828.5(HPSE2):c.419C>G (p.Pro140Arg)	rs967685128	0.00001
NM_021828.5(HPSE2):c.429T>A (p.Tyr143Ter)	rs2133951833
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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