List of variants in gene JPH2 reported by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser)	rs140740776	0.01021
NM_020433.5(JPH2):c.1282C>T (p.Gln428Ter)	rs199896820	0.00003
NM_020433.5(JPH2):c.421T>C (p.Tyr141His)	rs387906897	0.00001
NM_020433.5(JPH2):c.494C>T (p.Ser165Phe)	rs387906898	0.00001
NM_020433.5(JPH2):c.1920dup (p.Glu641Ter)	rs2145838034
NM_020433.5(JPH2):c.301A>C (p.Ser101Arg)	rs1600482909

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