List of variants in gene PPP2R5D reported as pathogenic by GenomeConnect - Simons Searchlight

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_006245.4(PPP2R5D):c.1258G>A (p.Glu420Lys)	rs863225080
NM_006245.4(PPP2R5D):c.253C>T (p.Arg85Ter)	rs1762094766
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys)	rs863225079
NM_006245.4(PPP2R5D):c.619T>C (p.Trp207Arg)	rs869320691
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro)	rs1762136390
NM_006245.4(PPP2R5D):c.758G>C (p.Arg253Pro)	rs1131691266

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