List of variants in gene RAB23 reported as pathogenic for RAB23-related Carpenter syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter)	rs121908171	0.00037
NM_016277.5(RAB23):c.408dup (p.Glu137Ter)	rs1438138090	0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter)	rs765443042	0.00001
NM_016277.5(RAB23):c.208del (p.Glu70fs)
NM_016277.5(RAB23):c.398+1G>A	rs2127998616
NM_016277.5(RAB23):c.86dup (p.Tyr29Ter)	rs1593223800

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