List of variants in gene RAB23 reported as likely pathogenic for 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_016277.5(RAB23):c.145C>T (p.Arg49Ter)	rs1049674573	0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter)	rs765443042	0.00001
NM_016277.5(RAB23):c.156-1G>C	rs373724159
NM_016277.5(RAB23):c.174_241+587delinsTTATCATTAA
NM_016277.5(RAB23):c.315_316del (p.Lys106fs)
NM_016277.5(RAB23):c.358_398+177delinsGGTGTACAGTTG	rs2127998544
NM_016277.5(RAB23):c.394A>T (p.Lys132Ter)
NM_016277.5(RAB23):c.399-2A>G
NM_016277.5(RAB23):c.481+1G>A
NM_016277.5(RAB23):c.482-1G>A
NM_016277.5(RAB23):c.482-1_486del	rs2127997697
NM_016277.5(RAB23):c.559del (p.Ser187fs)	rs2127997645

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