List of variants in gene JPH2 reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_020433.5(JPH2):c.637C>T (p.Arg213Trp)	rs767328866	0.00145
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys)	rs147407445	0.00038
NM_020433.5(JPH2):c.1894G>A (p.Glu632Lys)	rs200149713	0.00005
NM_020433.5(JPH2):c.1640C>T (p.Ala547Val)	rs772283505	0.00003
NM_020433.5(JPH2):c.1951A>G (p.Lys651Glu)	rs778410296	0.00002
NM_020433.5(JPH2):c.1655C>T (p.Pro552Leu)	rs876657833
NM_020433.5(JPH2):c.376G>A (p.Gly126Arg)	rs876657834
NM_020433.5(JPH2):c.497T>G (p.Leu166Arg)	rs876657835
NM_020433.5(JPH2):c.511_516dup (p.Ser171_Asn172dup)	rs864309612

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