List of variants in gene MBTPS2 reported as uncertain significance by GeneDx

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_015884.4(MBTPS2):c.1099G>A (p.Ala367Thr)	rs1469829254	0.00002
NM_015884.4(MBTPS2):c.1151G>A (p.Ser384Asn)
NM_015884.4(MBTPS2):c.1397T>C (p.Leu466Ser)
NM_015884.4(MBTPS2):c.1468A>G (p.Lys490Glu)	rs398124304
NM_015884.4(MBTPS2):c.1525G>T (p.Val509Leu)	rs778352155
NM_015884.4(MBTPS2):c.1556G>C (p.Arg519Pro)	rs906734941
NM_015884.4(MBTPS2):c.643G>T (p.Val215Phe)	rs2519562882
NM_015884.4(MBTPS2):c.695C>A (p.Ala232Glu)	rs1057524361
NM_015884.4(MBTPS2):c.842A>T (p.His281Leu)	rs1221474092
NM_015884.4(MBTPS2):c.910C>A (p.Pro304Thr)	rs147880530

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