List of variants in gene combination HYLS1, PUS3 reported as pathogenic for not provided

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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_031307.4(PUS3):c.-47+3170T>C	rs104894232	0.00103
NM_031307.4(PUS3):c.1A>G (p.Met1Val)	rs543614309	0.00004
NM_031307.4(PUS3):c.212A>G (p.Tyr71Cys)	rs761792490	0.00004
NM_031307.4(PUS3):c.838C>T (p.Arg280Ter)	rs374443634	0.00002
NM_001134793.2(HYLS1):c.-25-3061A>G	rs1296929975	0.00001
NM_001134793.2(HYLS1):c.-25-3062C>G
NM_001134793.2(HYLS1):c.-25-3153G>A
NM_031307.4(PUS3):c.55C>T (p.Arg19Ter)
NM_031307.4(PUS3):c.78_79del (p.Arg27fs)

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