List of variants in gene RAB23 reported as likely 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter)	rs765443042	0.00001
NM_016277.5(RAB23):c.315_316del (p.Lys106fs)
NM_016277.5(RAB23):c.394A>T (p.Lys132Ter)
NM_016277.5(RAB23):c.399-2A>G
NM_016277.5(RAB23):c.559del (p.Ser187fs)	rs2127997645

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