List of variants reported as uncertain significance for Gaucher disease perinatal lethal

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)	rs75548401	0.00627
NM_000157.4(GBA1):c.1200G>A (p.Met400Ile)	rs149487315	0.00091
NM_000157.4(GBA1):c.1224G>A (p.Thr408=)	rs138498426	0.00022
NM_000157.4(GBA1):c.1495G>A (p.Val499Met)	rs369068553	0.00006
NM_000157.4(GBA1):c.1346C>T (p.Thr449Met)	rs757930613	0.00002
NM_000157.4(GBA1):c.247C>T (p.Arg83Cys)	rs1141812	0.00002
NM_000157.4(GBA1):c.1043C>G (p.Ala348Gly)	rs78396650	0.00001
NM_000157.4(GBA1):c.104C>T (p.Ser35Leu)	rs757041827	0.00001
NM_000157.4(GBA1):c.1316G>A (p.Ser439Asn)	rs1571966221	0.00001
NM_000157.4(GBA1):c.145G>A (p.Gly49Ser)	rs760930573	0.00001
NM_000157.4(GBA1):c.34C>T (p.Pro12Ser)	rs763770350	0.00001
NM_000157.4(GBA1):c.10T>C (p.Ser4Pro)	rs2148083300
NM_000157.4(GBA1):c.1388G>C (p.Ser463Thr)	rs1571965884
NM_000157.4(GBA1):c.1389-33del	rs1671680082
NM_000157.4(GBA1):c.1506-10_1506-9delinsGA	rs1557900564

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.