List of variants in gene GMPPB reported as likely benign for autosomal recessive limb-girdle muscular dystrophy type 2T

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

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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

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