ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11850
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00589
NM_016277.5(RAB23):c.-23C>T rs145059995 0.00424
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) rs556931606 0.00001

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