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

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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: 9

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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
NM_021828.5(HPSE2):c.457C>T (p.Arg153Ter)	rs267606865	0.00001
NM_021828.5(HPSE2):c.1113del (p.Thr370_Tyr371insTer)
NM_021828.5(HPSE2):c.1145_1149del (p.Val382fs)
NM_021828.5(HPSE2):c.1308del (p.Phe436fs)
NM_021828.5(HPSE2):c.1407del (p.Pro470fs)
NM_021828.5(HPSE2):c.250del (p.Asp84fs)
NM_021828.5(HPSE2):c.291-1G>T

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