ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_000158.4(GBE1):c.*152C>A rs9820089
NM_000158.4(GBE1):c.*176G>A rs846
NM_000158.4(GBE1):c.*494A>T
NM_000158.4(GBE1):c.*523T>A
NM_000158.4(GBE1):c.-28G>T rs368460254
NM_000158.4(GBE1):c.-57G>A
NM_000158.4(GBE1):c.1000= (p.Ile334=)
NM_000158.4(GBE1):c.1000A>G (p.Ile334Val)
NM_000158.4(GBE1):c.1109-6del
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441
NM_000158.4(GBE1):c.143+10G>T rs9820490
NM_000158.4(GBE1):c.143+11A>C rs145918282
NM_000158.4(GBE1):c.1519A>G (p.Thr507Ala) rs2228389
NM_000158.4(GBE1):c.1716C>T (p.Asp572=) rs2229520
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr) rs28763904
NM_000158.4(GBE1):c.2016G>A (p.Glu672=) rs571448518
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511
NM_000158.4(GBE1):c.24G>A (p.Ala8=) rs28763906
NM_000158.4(GBE1):c.342C>T (p.Tyr114=) rs13320194
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066
NM_000158.4(GBE1):c.555+14del rs573234623
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519
NM_000158.4(GBE1):c.579G>A (p.Lys193=) rs17019144
NM_000158.4(GBE1):c.640G>A (p.Ala214Thr) rs201166587
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902
NM_000158.4(GBE1):c.859G>C (p.Val287Leu) rs116899644

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