List of variants in gene GUSB reported as pathogenic by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe)	rs121918181	0.00007
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn)	rs398123234	0.00001
NM_000181.4(GUSB):c.328C>T (p.Arg110Ter)	rs1053785648
NM_000181.4(GUSB):c.866G>A (p.Trp289Ter)	rs398123238

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