List of variants in gene PLEKHA7 reported as likely pathogenic by University of Washington Center for Mendelian Genomics, University of Washington

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001329630.2(PLEKHA7):c.1537C>T (p.Arg513Trp)	rs201543002	0.00001
NM_001329630.2(PLEKHA7):c.1631G>A (p.Gly544Asp)	rs768861538
NM_001329630.2(PLEKHA7):c.1985A>G (p.Asp662Gly)	rs1849496525

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