List of variants in gene HPSE2 reported as pathogenic for Urofacial syndrome 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
HPSE2, EX3DEL
HPSE2, EX8-9DEL
NM_001166244.1(HPSE2):c.1291_1292del (p.Asn431fs)	rs397515338
NM_001166244.1(HPSE2):c.235_236CT[3] (p.Leu81fs)	rs1469962264
NM_001166245.1(HPSE2):c.448+87957C>T	rs267606865
NM_001166246.1(HPSE2):c.*51A>T	rs397515452
NM_021828.4(HPSE2):c.1414C>T (p.Arg472Ter)	rs267606864
NM_021828.4(HPSE2):c.1516C>T (p.Arg506Ter)	rs267606866
NM_021828.4(HPSE2):c.57dup (p.Ala20fs)	rs778121647

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