List of variants in gene PSENEN reported as uncertain significance by Ambry Genetics

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_172341.4(PSENEN):c.245G>A (p.Arg82Gln)	rs199769543	0.00003
NM_172341.4(PSENEN):c.251G>A (p.Arg84His)	rs145741019	0.00003
NM_172341.4(PSENEN):c.256G>T (p.Gly86Cys)	rs775266605	0.00001
NM_172341.4(PSENEN):c.244C>T (p.Arg82Trp)
NM_172341.4(PSENEN):c.299C>A (p.Thr100Asn)	rs1290835389
NM_172341.4(PSENEN):c.5A>G (p.Asn2Ser)
NM_172341.4(PSENEN):c.73T>C (p.Phe25Leu)

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