ClinVar Miner

List of variants in gene HPSE2 reported as likely pathogenic for Urofacial syndrome type 1

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs)	rs397515338	0.00019
NM_021828.5(HPSE2):c.1516C>T (p.Arg506Ter)	rs267606866	0.00001

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