List of variants in gene combination GUSB, LOC126860055 reported as pathogenic for bone disorder

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.1617C>T (p.Ser539=)	rs377519272	0.00004
NM_000181.4(GUSB):c.1521G>A (p.Trp507Ter)	rs121918179	0.00001
NM_000181.4(GUSB):c.1651C>T (p.Gln551Ter)	rs1344332366	0.00001
NM_000181.4(GUSB):c.1484A>G (p.Tyr495Cys)	rs121918178

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