ClinVar Miner

List of variants in gene RAB23 reported as uncertain significance for Carpenter syndrome

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 17
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NM_016277.5(RAB23):c.*145T>C rs189570356
NM_016277.5(RAB23):c.*544G>A rs138311113
NM_016277.5(RAB23):c.*600_*603AATT[1] rs886061654
NM_016277.5(RAB23):c.*618A>G rs886061653
NM_016277.5(RAB23):c.-23C>T rs145059995
NM_016277.5(RAB23):c.-49C>T rs45474592
NM_016277.5(RAB23):c.239G>A (p.Arg80Gln) rs145669565
NM_016277.5(RAB23):c.242-31ATTG[6] rs45542438
NM_016277.5(RAB23):c.25G>A (p.Ala9Thr) rs150655349
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896
NM_016277.5(RAB23):c.337G>A (p.Asp113Asn)
NM_016277.5(RAB23):c.398+9G>A rs376839366
NM_016277.5(RAB23):c.416T>C (p.Leu139Pro)
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) rs150440590
NM_016277.5(RAB23):c.616T>A (p.Ser206Thr) rs202181599
NM_016277.5(RAB23):c.714A>G (p.Ter238=) rs142290596
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042

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