ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 5
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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.398+1G>A rs2127998616
NM_016277.5(RAB23):c.86dup (p.Tyr29Ter) rs1593223800

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