List of variants in gene JPH2 reported as benign by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_020433.5(JPH2):c.156C>T (p.Tyr52=)	rs1883790	0.86681
NM_020433.5(JPH2):c.2073T>C (p.Phe691=)	rs6093935	0.33656
NM_020433.5(JPH2):c.1728C>G (p.Pro576=)	rs74352869	0.21684
NM_020433.5(JPH2):c.1186G>A (p.Ala396Thr)	rs3810510	0.20153
NM_020433.5(JPH2):c.1179C>T (p.His393=)	rs7268512	0.08199
NM_020433.5(JPH2):c.380-9C>G	rs111987307	0.00419
NM_020433.5(JPH2):c.380-6C>T	rs201197277	0.00218
NM_020433.5(JPH2):c.1410G>A (p.Pro470=)	rs751126526	0.00035
NM_020433.5(JPH2):c.780C>T (p.Ala260=)	rs199840543	0.00034
NM_020433.5(JPH2):c.1107T>C (p.Ser369=)	rs148311735	0.00033
NM_020433.5(JPH2):c.379+4772G>C	rs6017285
NM_020433.5(JPH2):c.379+4805G>A	rs757075451
NM_020433.5(JPH2):c.624C>G (p.Ala208=)	rs398124358

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