List of variants reported as pathogenic for Carpenter syndrome

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 18

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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.145C>T (p.Arg49Ter)	rs1049674573	0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter)	rs765443042	0.00001
NC_000006.11:g.(?_57061071)_(57061424_?)del
NC_000006.11:g.(?_57075004)_(57075178_?)del
NC_000006.12:g.(?_57186982)_(57222324_?)del
NM_016277.5(RAB23):c.142G>T (p.Glu48Ter)	rs1765602287
NM_016277.5(RAB23):c.17del (p.Met6fs)	rs1765608519
NM_016277.5(RAB23):c.238C>T (p.Arg80Ter)
NM_016277.5(RAB23):c.313_316del (p.Glu105fs)
NM_016277.5(RAB23):c.421A>T (p.Lys141Ter)	rs2127998022
NM_016277.5(RAB23):c.426del (p.Arg142fs)
NM_016277.5(RAB23):c.430_431del (p.Lys144fs)
NM_016277.5(RAB23):c.467del (p.Leu156fs)
NM_016277.5(RAB23):c.481G>C (p.Val161Leu)	rs1060505026
NM_016277.5(RAB23):c.526C>T (p.Gln176Ter)	rs2127997677
NM_016277.5(RAB23):c.5del (p.Leu2fs)	rs1593223920
NM_016277.5(RAB23):c.82del (p.Arg28fs)	rs2128004184

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