List of variants in gene JUP reported as benign by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_002230.4(JUP):c.405C>T (p.Asp135=)	rs17850807	0.03356
NM_002230.4(JUP):c.867C>T (p.Thr289=)	rs2230407	0.01591
NM_002230.4(JUP):c.1942G>A (p.Val648Ile)	rs143043662	0.00760
NM_002230.4(JUP):c.1563A>G (p.Ala521=)	rs149926974	0.00753
NM_002230.4(JUP):c.*2C>T	rs112879398	0.00630
NM_002230.4(JUP):c.1224C>T (p.Leu408=)	rs2230408	0.00620
NM_002230.4(JUP):c.777C>T (p.Gly259=)	rs34890640	0.00507
NM_002230.4(JUP):c.1807G>T (p.Val603Leu)	rs200327969	0.00038
NM_002230.4(JUP):c.546G>A (p.Ser182=)	rs202038498	0.00023
NM_002230.4(JUP):c.1377G>T (p.Leu459=)	rs147370522	0.00018
NM_002230.4(JUP):c.1774-6C>T	rs375016135	0.00007
NM_002230.4(JUP):c.909+6C>T	rs193922705

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