Variants in gene GBE1 with conflicting interpretations "pathogenic" and "uncertain significance"

Submission 1 (pathogenic) minimum review status:		Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status:		Submission 2 (uncertain significance) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 11

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HGVS	dbSNP	gnomAD frequency
NM_000158.4(GBE1):c.555+1G>T	rs759707498	0.00006
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys)	rs772802187	0.00004
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)	rs770427750	0.00004
NM_000158.4(GBE1):c.1604A>G (p.Tyr535Cys)	rs886058900	0.00001
NM_000158.4(GBE1):c.1694G>A (p.Arg565Gln)	rs774619760	0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)	rs137852891	0.00001
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn)	rs1209123501	0.00001
NM_000158.4(GBE1):c.1336-1G>A	rs375253942
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer)	rs1367364158
NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter)	rs201029706
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu)	rs754525424

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