List of variants in gene HPSE2 reported as likely benign for Ochoa syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_021828.5(HPSE2):c.957-28_957-19dup	rs113633161	0.04498
NM_021828.5(HPSE2):c.1194T>C (p.Ala398=)	rs111762231	0.00507
NM_021828.5(HPSE2):c.290+7C>T	rs72840396	0.00169
NM_021828.5(HPSE2):c.273C>A (p.Gly91=)	rs115042847	0.00156
NM_021828.5(HPSE2):c.1476C>T (p.Tyr492=)	rs140154839	0.00137
NM_021828.5(HPSE2):c.1154C>T (p.Thr385Ile)	rs200583760	0.00063
NM_021828.5(HPSE2):c.573G>A (p.Glu191=)	rs148098032	0.00042
NM_021828.5(HPSE2):c.1099-9T>C	rs376566722	0.00034

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