List of variants in gene HPSE2 reported as pathogenic for autosomal recessive disease

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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: 12

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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.1414C>T (p.Arg472Ter)	rs267606864	0.00002
NM_021828.5(HPSE2):c.1099-1G>A	rs184270108	0.00001
NM_021828.5(HPSE2):c.1516C>T (p.Arg506Ter)	rs267606866	0.00001
NM_021828.5(HPSE2):c.457C>T (p.Arg153Ter)	rs267606865	0.00001
NG_023416.2:g.(88604_176551)_(176714_576894)del
NM_021828.5(HPSE2):c.1628A>T (p.Asn543Ile)	rs397515452
NM_021828.5(HPSE2):c.241_242del (p.Leu81fs)	rs1469962264
NM_021828.5(HPSE2):c.429T>A (p.Tyr143Ter)	rs2133951833
NM_021828.5(HPSE2):c.57dup (p.Ala20fs)	rs778121647
NM_021828.5(HPSE2):c.902T>A (p.Leu301Ter)	rs2134250333
NM_021828.5:c.1099-4166_1320+840delins23

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