List of variants reported as pathogenic for Gaucher disease by Natera, Inc.

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: 32

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)	rs1064651	0.00020
NM_000157.4(GBA1):c.222_224del (p.Thr75del)	rs761621516	0.00016
NM_000157.4(GBA1):c.115+1G>A	rs104886460	0.00006
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)	rs80356771	0.00006
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)	rs75822236	0.00006
NM_000157.4(GBA1):c.84dup (p.Leu29fs)	rs387906315	0.00006
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)	rs78973108	0.00004
NM_000157.4(GBA1):c.475C>T (p.Arg159Trp)	rs439898	0.00003
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg)	rs61748906	0.00003
NM_000157.4(GBA1):c.762-1G>C	rs1237637353	0.00003
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile)	rs76539814	0.00001
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)	rs121908311	0.00001
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)	rs80356769	0.00001
NM_000157.4(GBA1):c.1312G>A (p.Asp438Asn)	rs1553217009	0.00001
NM_000157.4(GBA1):c.1505G>A (p.Arg502His)	rs80356772	0.00001
NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys)	rs747506979	0.00001
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp)	rs1141814	0.00001
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln)	rs79653797	0.00001
NM_000157.4(GBA1):c.595_596del (p.Leu199fs)	rs749714463	0.00001
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys)	rs398123532	0.00001
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)	rs1064644	0.00001
NM_000157.4(GBA1):c.709A>G (p.Lys237Glu)	rs773409311	0.00001
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)	rs381737	0.00001
NM_000157.4(GBA1):c.108G>A (p.Trp36Ter)	rs777383151
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter)	rs121908309
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs)	rs80356768
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	rs421016
NM_000157.4(GBA1):c.203dup (p.Thr69fs)	rs1170895261
NM_000157.4(GBA1):c.254G>A (p.Gly85Glu)	rs77829017
NM_000157.4(GBA1):c.635C>G (p.Ser212Ter)	rs1671872221
NM_000157.4(GBA1):c.653G>A (p.Trp218Ter)	rs867929413
NM_000157.4(GBA1):c.886C>T (p.Arg296Ter)	rs1553217626

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.