ClinVar Miner

List of variants in gene GBE1 reported as likely benign for not specified

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000158.4(GBE1):c.-28G>T rs368460254 0.48974
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_000158.4(GBE1):c.143+11A>C rs145918282 0.00545
NM_000158.4(GBE1):c.429+35T>C rs151091415 0.00389
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902 0.00388
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066 0.00259
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.1237-18C>T rs368966861 0.00057
NM_000158.4(GBE1):c.1237-15C>T rs376809475 0.00039
NM_000158.4(GBE1):c.313+15G>A rs184391304 0.00018
NM_000158.4(GBE1):c.45G>A (p.Glu15=) rs370326965 0.00014
NM_000158.4(GBE1):c.993-19T>C rs374576644 0.00012
NM_000158.4(GBE1):c.*5G>A rs371081815 0.00006
NM_000158.4(GBE1):c.143+6G>A rs371048718 0.00003
NM_000158.4(GBE1):c.1446+15G>T rs752305746 0.00002
NM_000158.4(GBE1):c.1446+18T>C rs1013562114 0.00001
NM_000158.4(GBE1):c.1619-16G>A rs546023161 0.00001
NM_000158.4(GBE1):c.1635T>C (p.His545=) rs780741533 0.00001
NM_000158.4(GBE1):c.313+9T>C rs772444966 0.00001
NM_000158.4(GBE1):c.709T>C (p.Leu237=) rs886038263 0.00001
NM_000158.4(GBE1):c.1842T>C (p.Ile614=) rs774354874
NM_000158.4(GBE1):c.314-13_314-11del
NM_000158.4(GBE1):c.333G>C (p.Ser111=) rs374518318
NM_000158.4(GBE1):c.555+14del rs573234623

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