ClinVar Miner

List of variants in gene GBE1 reported as uncertain significance for adult polyglucosan body disease

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) rs372821643 0.00125
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114 0.00125
NM_000158.4(GBE1):c.*468G>A rs750772386 0.00073
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548 0.00071
NM_000158.4(GBE1):c.*555G>A rs143820392 0.00068
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser) rs185631651 0.00054
NM_000158.4(GBE1):c.1237-15C>T rs376809475 0.00039
NM_000158.4(GBE1):c.*466G>A rs571158601 0.00029
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000158.4(GBE1):c.313+15G>A rs184391304 0.00018
NM_000158.4(GBE1):c.1803G>A (p.Gln601=) rs368793136 0.00014
NM_000158.4(GBE1):c.45G>A (p.Glu15=) rs370326965 0.00014
NM_000158.4(GBE1):c.*226T>C rs748963117 0.00011
NM_000158.4(GBE1):c.496C>T (p.Arg166Cys) rs376546162 0.00009
NM_000158.4(GBE1):c.467G>A (p.Arg156His) rs374404487 0.00007
NM_000158.4(GBE1):c.*460C>T rs771301034 0.00006
NM_000158.4(GBE1):c.*558T>C rs886058899 0.00006
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys) rs760661724 0.00006
NM_000158.4(GBE1):c.1988T>C (p.Leu663Pro) rs761908536 0.00006
NM_000158.4(GBE1):c.1392C>T (p.Leu464=) rs563241317 0.00005
NM_000158.4(GBE1):c.*598G>C rs886058898 0.00004
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187 0.00004
NM_000158.4(GBE1):c.23C>T (p.Ala8Val) rs759518868 0.00004
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750 0.00004
NM_000158.4(GBE1):c.*395A>G rs138608612 0.00003
NM_000158.4(GBE1):c.1286G>C (p.Gly429Ala) rs745594101 0.00003
NM_000158.4(GBE1):c.293T>G (p.Val98Gly) rs775486403 0.00003
NM_000158.4(GBE1):c.292G>C (p.Val98Leu) rs762945205 0.00002
NM_000158.4(GBE1):c.556-6C>T rs754051144 0.00002
NM_000158.4(GBE1):c.*545G>C rs548648836 0.00001
NM_000158.4(GBE1):c.-6C>G rs1197683058 0.00001
NM_000158.4(GBE1):c.1581G>A (p.Thr527=) rs140571802 0.00001
NM_000158.4(GBE1):c.1714G>A (p.Asp572Asn) rs775980435 0.00001
NM_000158.4(GBE1):c.1874T>G (p.Phe625Cys) rs769567764 0.00001
NM_000158.4(GBE1):c.203A>T (p.Lys68Met) rs779371387 0.00001
NM_000158.4(GBE1):c.692-6A>G rs757655010 0.00001
NM_000158.4(GBE1):c.721A>G (p.Met241Val) rs747155575 0.00001
NM_000158.4(GBE1):c.955C>T (p.His319Tyr) rs767100121 0.00001
NM_000158.3(GBE1):c.-195G>T rs886058904
NM_000158.4(GBE1):c.*388T>A rs1702416693
NM_000158.4(GBE1):c.*44T>A rs1702420526
NM_000158.4(GBE1):c.*494A>C rs145934828
NM_000158.4(GBE1):c.-4G>A rs1283709127
NM_000158.4(GBE1):c.1070A>G (p.Asp357Gly) rs1703917500
NM_000158.4(GBE1):c.1309A>G (p.Met437Val) rs1288041902
NM_000158.4(GBE1):c.144-7T>C rs886058902
NM_000158.4(GBE1):c.1454T>C (p.Val485Ala) rs771241994
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr) rs1456579860
NM_000158.4(GBE1):c.1570C>G (p.Arg524Gly) rs137852888
NM_000158.4(GBE1):c.1676G>T (p.Ser559Ile) rs1703085718
NM_000158.4(GBE1):c.1842T>A (p.Ile614=) rs774354874
NM_000158.4(GBE1):c.647A>G (p.Tyr216Cys) rs886058901
NM_000158.4(GBE1):c.665A>G (p.Asn222Ser) rs1350258947
NM_000158.4(GBE1):c.969T>C (p.Asp323=) rs555689284
NM_000158.4(GBE1):c.998A>G (p.Glu333Gly) rs1553684545

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