ClinVar Miner

Variants in gene GBE1 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 24
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HGVS dbSNP gnomAD frequency
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971 0.00237
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.2074G>A (p.Ala692Thr) rs192877602 0.00116
NM_000158.4(GBE1):c.350T>C (p.Leu117Pro) rs186942296 0.00063
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.990C>T (p.Ser330=) rs371194644 0.00027
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.1406A>G (p.Tyr469Cys) rs760661724 0.00006
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511 0.00006
NM_000158.4(GBE1):c.1392C>T (p.Leu464=) rs563241317 0.00005
NM_000158.4(GBE1):c.1932G>A (p.Gly644=) rs544906178 0.00004
NM_000158.4(GBE1):c.143+8C>G rs750447886 0.00003
NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala) rs757297254 0.00002
NM_000158.4(GBE1):c.556-6C>T rs754051144 0.00002
NM_000158.4(GBE1):c.1335+9C>G rs754084067 0.00001
NM_000158.4(GBE1):c.1581G>A (p.Thr527=) rs140571802 0.00001
NM_000158.4(GBE1):c.692-6A>G rs757655010 0.00001
NM_000158.4(GBE1):c.1656A>C (p.Pro552=) rs1340229013
NM_000158.4(GBE1):c.1842T>A (p.Ile614=) rs774354874
NM_000158.4(GBE1):c.333G>A (p.Ser111=) rs374518318
NM_000158.4(GBE1):c.969T>C (p.Asp323=) rs555689284

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