List of variants in gene HPSE2 reported as uncertain significance for Urofacial syndrome type 1

Minimum submission review status:		Collection method:
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)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_021828.5(HPSE2):c.1696G>A (p.Gly566Ser)	rs577966759	0.00001
NM_021828.5(HPSE2):c.815G>A (p.Arg272Gln)	rs376543806	0.00001
NM_021828.5(HPSE2):c.55C>T (p.Pro19Ser)	rs78935940

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