List of variants in gene GMPPB reported as likely benign for muscular dystrophy-dystroglycanopathy, type A

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: 111

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_021971.4(GMPPB):c.1017C>T (p.Asn339=)	rs147074020	0.00113
NM_021971.4(GMPPB):c.951+9G>A	rs55816606	0.00059
NM_021971.4(GMPPB):c.309T>C (p.Pro103=)	rs147516683	0.00042
NM_021971.4(GMPPB):c.729G>A (p.Arg243=)	rs370448223	0.00035
NM_021971.4(GMPPB):c.1065G>A (p.Glu355=)	rs143218268	0.00031
NM_021971.4(GMPPB):c.562-9C>A	rs183240200	0.00024
NM_021971.4(GMPPB):c.702G>A (p.Gln234=)	rs368795315	0.00024
NM_021971.4(GMPPB):c.1048G>A (p.Gly350Ser)	rs184127567	0.00022
NM_021971.4(GMPPB):c.939C>T (p.Arg313=)	rs147714661	0.00021
NM_021971.4(GMPPB):c.129+17G>A	rs375887616	0.00018
NM_021971.4(GMPPB):c.403-6A>G	rs377689496	0.00013
NM_021971.4(GMPPB):c.402+15C>T	rs371972364	0.00011
NM_021971.4(GMPPB):c.129+7C>A	rs748350135	0.00009
NM_021971.4(GMPPB):c.525G>T (p.Met175Ile)	rs147966522	0.00009
NM_021971.4(GMPPB):c.30T>C (p.Tyr10=)	rs140509231	0.00008
NM_021971.4(GMPPB):c.459A>G (p.Thr153=)	rs140968388	0.00008
NM_021971.4(GMPPB):c.621A>G (p.Leu207=)	rs369255307	0.00007
NM_021971.4(GMPPB):c.952-14A>G	rs747845961	0.00005
NM_021971.4(GMPPB):c.198A>C (p.Ala66=)	rs889957809	0.00003
NM_021971.4(GMPPB):c.486G>A (p.Lys162=)	rs144305518	0.00003
NM_021971.4(GMPPB):c.531C>A (p.Ile177=)	rs140427047	0.00003
NM_021971.4(GMPPB):c.573G>A (p.Thr191=)	rs775798814	0.00003
NM_021971.4(GMPPB):c.594C>T (p.Phe198=)	rs148249248	0.00003
NM_021971.4(GMPPB):c.769-9C>T	rs781777729	0.00003
NM_021971.4(GMPPB):c.786C>T (p.Ile262=)	rs201123231	0.00003
NM_021971.4(GMPPB):c.130-16G>T	rs201729050	0.00002
NM_021971.4(GMPPB):c.260-5C>T	rs762790429	0.00002
NM_021971.4(GMPPB):c.432C>T (p.Tyr144=)	rs779522830	0.00002
NM_021971.4(GMPPB):c.562-10A>G	rs769914373	0.00002
NM_021971.4(GMPPB):c.697C>T (p.Leu233=)	rs772099238	0.00002
NM_021971.4(GMPPB):c.759C>T (p.Asn253=)	rs1032078654	0.00002
NM_021971.4(GMPPB):c.966C>T (p.Asn322=)	rs781114909	0.00002
NM_021971.4(GMPPB):c.1014C>T (p.Leu338=)	rs756344903	0.00001
NM_021971.4(GMPPB):c.1050C>A (p.Gly350=)	rs746616705	0.00001
NM_021971.4(GMPPB):c.130-13T>C	rs756852893	0.00001
NM_021971.4(GMPPB):c.130-6T>G	rs369862012	0.00001
NM_021971.4(GMPPB):c.210+9C>T	rs775118468	0.00001
NM_021971.4(GMPPB):c.300T>C (p.Thr100=)	rs1269383125	0.00001
NM_021971.4(GMPPB):c.402+8G>A	rs374491667	0.00001
NM_021971.4(GMPPB):c.477C>T (p.Phe159=)	rs756215708	0.00001
NM_021971.4(GMPPB):c.640+10G>C	rs769641702	0.00001
NM_021971.4(GMPPB):c.640+19A>G	rs1472999197	0.00001
NM_021971.4(GMPPB):c.672C>T (p.Asp224=)	rs1247769949	0.00001
NM_021971.4(GMPPB):c.6G>A (p.Lys2=)	rs1297069725	0.00001
NM_021971.4(GMPPB):c.801C>T (p.Ser267=)	rs752457623	0.00001
NM_021971.4(GMPPB):c.831C>T (p.Gly277=)	rs763262592	0.00001
NM_021971.4(GMPPB):c.918C>T (p.Cys306=)	rs1186936513	0.00001
NM_021971.4(GMPPB):c.951+7C>A	rs973900671	0.00001
NM_021971.4(GMPPB):c.954A>G (p.Val318=)	rs747818187	0.00001
NM_021971.4(GMPPB):c.981T>C (p.Gly327=)	rs779167148	0.00001
NM_021971.4(GMPPB):c.987C>T (p.Asp329=)	rs541447888	0.00001
NM_021971.4(GMPPB):c.1026C>T (p.Ser342=)
NM_021971.4(GMPPB):c.1071T>A (p.Arg357=)
NM_021971.4(GMPPB):c.1082G>A (p.Ter361=)
NM_021971.4(GMPPB):c.129+7C>T	rs748350135
NM_021971.4(GMPPB):c.135C>T (p.Gly45=)	rs1426684077
NM_021971.4(GMPPB):c.150C>T (p.Ile50=)
NM_021971.4(GMPPB):c.159G>T (p.Val53=)	rs1575296935
NM_021971.4(GMPPB):c.15C>A (p.Ile5=)	rs1464233491
NM_021971.4(GMPPB):c.210+20C>A	rs1360110702
NM_021971.4(GMPPB):c.210+9_210+10del	rs776779111
NM_021971.4(GMPPB):c.21G>T (p.Val7=)
NM_021971.4(GMPPB):c.259+19G>A
NM_021971.4(GMPPB):c.259+9A>C	rs2108212798
NM_021971.4(GMPPB):c.260-13C>G
NM_021971.4(GMPPB):c.260-7C>T
NM_021971.4(GMPPB):c.264G>A (p.Gly88=)
NM_021971.4(GMPPB):c.288A>G (p.Leu96=)
NM_021971.4(GMPPB):c.291C>T (p.Leu97=)
NM_021971.4(GMPPB):c.315C>T (p.Phe105=)	rs1354442227
NM_021971.4(GMPPB):c.36G>A (p.Thr12=)
NM_021971.4(GMPPB):c.402+16T>G
NM_021971.4(GMPPB):c.403-10T>G	rs998425223
NM_021971.4(GMPPB):c.403-5T>C	rs1559697285
NM_021971.4(GMPPB):c.465C>T (p.Arg155=)	rs2080436229
NM_021971.4(GMPPB):c.506A>G (p.Asn169Ser)
NM_021971.4(GMPPB):c.543A>G (p.Ala181=)	rs2080434465
NM_021971.4(GMPPB):c.561+13C>G
NM_021971.4(GMPPB):c.561+14A>G	rs1403713701
NM_021971.4(GMPPB):c.561+18G>A
NM_021971.4(GMPPB):c.600T>C (p.Ile200=)
NM_021971.4(GMPPB):c.612G>A (p.Glu204=)
NM_021971.4(GMPPB):c.615G>A (p.Gly205=)
NM_021971.4(GMPPB):c.618G>A (p.Gln206=)	rs2108211544
NM_021971.4(GMPPB):c.619C>T (p.Leu207=)	rs2108211541
NM_021971.4(GMPPB):c.640+15C>T
NM_021971.4(GMPPB):c.641-10C>T	rs1438419966
NM_021971.4(GMPPB):c.641-11C>T
NM_021971.4(GMPPB):c.641-14A>C
NM_021971.4(GMPPB):c.654C>T (p.Asp218=)
NM_021971.4(GMPPB):c.663G>A (p.Gln221=)	rs2108211356
NM_021971.4(GMPPB):c.699G>A (p.Leu233=)
NM_021971.4(GMPPB):c.768+13C>T
NM_021971.4(GMPPB):c.769-20_769-17dup	rs764253773
NM_021971.4(GMPPB):c.813T>C (p.Asn271=)
NM_021971.4(GMPPB):c.819C>T (p.Ser273=)	rs774498980
NM_021971.4(GMPPB):c.828T>C (p.Pro276=)	rs200706198
NM_021971.4(GMPPB):c.840C>G (p.Val280=)	rs763668055
NM_021971.4(GMPPB):c.840C>T (p.Val280=)
NM_021971.4(GMPPB):c.859C>A (p.Arg287=)	rs142908436
NM_021971.4(GMPPB):c.903C>G (p.Ser301=)	rs2108210840
NM_021971.4(GMPPB):c.927C>A (p.Gly309=)
NM_021971.4(GMPPB):c.936C>T (p.Cys312=)	rs2108210776
NM_021971.4(GMPPB):c.951+18G>T	rs2108210687
NM_021971.4(GMPPB):c.951+9G>T	rs55816606
NM_021971.4(GMPPB):c.952-12C>T
NM_021971.4(GMPPB):c.952-15T>C
NM_021971.4(GMPPB):c.952-17C>T
NM_021971.4(GMPPB):c.952-5del
NM_021971.4(GMPPB):c.972A>G (p.Thr324=)
NM_021971.4(GMPPB):c.984G>A (p.Glu328=)	rs2108210451

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.