ClinVar Miner

List of variants reported as pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2T

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp) rs142908436 0.00006
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile) rs199922550 0.00005
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr) rs761714818 0.00004
NM_021971.4(GMPPB):c.953T>C (p.Val318Ala) rs559784211 0.00004
NM_021971.4(GMPPB):c.458C>T (p.Thr153Ile) rs202013297 0.00003
NM_021971.4(GMPPB):c.760G>A (p.Val254Met) rs875989850 0.00003
NM_021971.4(GMPPB):c.1070G>A (p.Arg357His) rs771861177 0.00001
NM_021971.4(GMPPB):c.294dup (p.Glu99Ter) rs1365085828 0.00001
NM_021971.4(GMPPB):c.395C>G (p.Ser132Cys) rs145535498 0.00001
NM_021971.4(GMPPB):c.402+1G>A rs145564018 0.00001
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425 0.00001
NM_021971.4(GMPPB):c.95C>T (p.Pro32Leu) rs397509426 0.00001
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) rs397509422
NM_021971.4(GMPPB):c.1039_1042dup (p.Ser348Ter) rs1210040661
NM_021971.4(GMPPB):c.1051_1054dup (p.Ser352Ter)
NM_021971.4(GMPPB):c.109C>T (p.Gln37Ter) rs1348189028
NM_021971.4(GMPPB):c.132_141del (p.Gly45fs)
NM_021971.4(GMPPB):c.225del (p.Ser76fs)
NM_021971.4(GMPPB):c.271_283del (p.Ala91fs) rs1191822017
NM_021971.4(GMPPB):c.308C>T (p.Pro103Leu) rs875989851
NM_021971.4(GMPPB):c.358A>G (p.Met120Val) rs1559697515
NM_021971.4(GMPPB):c.365_366dup (p.Phe123fs) rs1553691975
NM_021971.4(GMPPB):c.458_459del (p.Thr153fs) rs1553691918
NM_021971.4(GMPPB):c.618dup (p.Leu207fs)
NM_021971.4(GMPPB):c.640+1G>A rs141588721
NM_021971.4(GMPPB):c.64C>T (p.Pro22Ser) rs397509424
NM_021971.4(GMPPB):c.728_746delinsACAGA (p.Arg243fs) rs2080426663
NM_021971.4(GMPPB):c.790C>T (p.Gln264Ter) rs763971677
NM_021971.4(GMPPB):c.854_855del (p.Cys285fs)
NM_021971.4(GMPPB):c.951G>A (p.Trp317Ter)
NM_021971.4(GMPPB):c.972dup (p.Val325fs)

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