List of variants in gene AASS reported as uncertain significance for Hyperlysinemia

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_005763.4(AASS):c.2339A>C (p.Lys780Thr)	rs147475291	0.00097
NM_005763.4(AASS):c.2317T>A (p.Ser773Thr)	rs147414883	0.00024
NM_005763.4(AASS):c.1393C>G (p.Leu465Val)	rs1011506361	0.00003
NM_005763.4(AASS):c.1733A>G (p.Tyr578Cys)

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