List of variants in gene JPH2 reported as uncertain significance by Victorian Clinical Genetics Services, Murdoch Childrens Research 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_020433.5(JPH2):c.692G>A (p.Arg231Gln)	rs761591158	0.00038
NM_020433.5(JPH2):c.1658C>T (p.Ala553Val)	rs200422043	0.00005
NM_020433.5(JPH2):c.1417C>T (p.His473Tyr)	rs1308500935	0.00001
NM_020433.5(JPH2):c.373G>A (p.Asp125Asn)	rs372627882
NM_020433.5(JPH2):c.505G>A (p.Glu169Lys)	rs2072600840

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