ClinVar Miner

List of variants studied for Carpenter syndrome by Illumina Laboratory Services, Illumina

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_016277.5(RAB23):c.*1312A>G rs11398 0.15738
NM_016277.5(RAB23):c.*416G>C rs1411578 0.15575
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11850
NM_016277.5(RAB23):c.*1251G>A rs182662 0.01805
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00589
NM_016277.5(RAB23):c.*920C>G rs530900959 0.00011
NM_016277.5(RAB23):c.*1665_*1667dup rs886061651 0.00005
NM_016277.5(RAB23):c.*1180ATCA[3] rs139778770
NM_016277.5(RAB23):c.*600AATT[1] rs886061654
NM_016277.5(RAB23):c.242-31ATTG[6] rs45542438

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