List of variants in gene JPH2 reported as benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 8

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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.1289-7C>T	rs116986535	0.02048
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser)	rs140740776	0.01021
NM_020433.5(JPH2):c.380-9C>G	rs111987307	0.00419
NM_020433.5(JPH2):c.562C>T (p.Pro188Ser)	rs574746149	0.00214
NM_020433.5(JPH2):c.642G>A (p.Ala214=)	rs587780956	0.00128
NM_020433.5(JPH2):c.1971G>A (p.Glu657=)	rs142333841	0.00099
NM_020433.5(JPH2):c.624C>G (p.Ala208=)	rs398124358

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