ClinVar Miner

List of variants in gene GBE1 reported as likely pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NC_000003.12:g.(?_81490387)_(81705633_?)del
NC_000003.12:g.(?_81490397)_(81490473_?)del
NM_000158.4(GBE1):c.143+2T>C
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) rs80338672
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741
NM_000158.4(GBE1):c.1618+1G>A
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)
NM_000158.4(GBE1):c.1680C>A (p.Tyr560Ter) rs1559637815
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) rs552094593
NM_000158.4(GBE1):c.1803+1G>A
NM_000158.4(GBE1):c.1803+2T>C rs539203557
NM_000158.4(GBE1):c.1804-2A>T
NM_000158.4(GBE1):c.555+1G>T rs759707498
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886
NM_000158.4(GBE1):c.721A>G (p.Met241Val) rs747155575
NM_000158.4(GBE1):c.770T>C (p.Phe257Ser) rs1576183537
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719
NM_000158.4(GBE1):c.956A>G (p.His319Arg)
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671
NM_000158.4(GBE1):c.992+2T>G

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