List of variants in gene JPH2 reported as likely benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_020433.5(JPH2):c.1794C>A (p.Ser598=)	rs369883442	0.00196
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg)	rs554853074	0.00048
NM_020433.5(JPH2):c.1380G>A (p.Ala460=)	rs531877510	0.00044
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys)	rs147407445	0.00038
NM_020433.5(JPH2):c.1107T>C (p.Ser369=)	rs148311735	0.00033
NM_020433.5(JPH2):c.783G>C (p.Ala261=)	rs201085317	0.00033
NM_020433.5(JPH2):c.648G>A (p.Lys216=)	rs796219248	0.00029
NM_020433.5(JPH2):c.1852A>G (p.Thr618Ala)	rs376612687	0.00017
NM_020433.5(JPH2):c.1169+10C>T	rs372219237	0.00009
NM_020433.5(JPH2):c.1974C>T (p.Ala658=)	rs554320907	0.00004
NM_020433.5(JPH2):c.1170-11T>C	rs376052338	0.00003
NM_020433.5(JPH2):c.1497C>A (p.Pro499=)	rs1441785257	0.00002
NM_020433.5(JPH2):c.820G>A (p.Asp274Asn)	rs376694047	0.00002
NM_020433.5(JPH2):c.1289-9C>T	rs936894679	0.00001
NM_020433.5(JPH2):c.810C>A (p.Ala270=)	rs779680763	0.00001
NM_020433.5(JPH2):c.624C>G (p.Ala208=)	rs398124358

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