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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_016277.5(RAB23):c.*544G>A	rs138311113	0.00213
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala)	rs150440590	0.00056
NM_016277.5(RAB23):c.346A>G (p.Thr116Ala)	rs138803099	0.00016
NM_016277.5(RAB23):c.25G>A (p.Ala9Thr)	rs150655349	0.00013
NM_016277.5(RAB23):c.90C>G (p.Cys30Trp)	rs776515230	0.00006
NM_016277.5(RAB23):c.123C>T (p.Thr41=)	rs759408401	0.00005
NM_016277.5(RAB23):c.*618A>G	rs886061653	0.00004
NM_016277.5(RAB23):c.*81G>T	rs1304531152	0.00004
NM_016277.5(RAB23):c.481+10C>T	rs546078370	0.00004
NM_016277.5(RAB23):c.54A>G (p.Gly18=)	rs767442221	0.00004
NM_016277.5(RAB23):c.616T>A (p.Ser206Thr)	rs202181599	0.00004
NM_016277.5(RAB23):c.670A>T (p.Thr224Ser)	rs748638791	0.00004
NM_016277.5(RAB23):c.-49C>T	rs45474592	0.00003
NM_016277.5(RAB23):c.*145T>C	rs189570356	0.00001
NM_016277.5(RAB23):c.222T>C (p.Ile74=)	rs759497648	0.00001
NM_016277.5(RAB23):c.239G>A (p.Arg80Gln)	rs145669565	0.00001
NM_016277.5(RAB23):c.398+9G>A	rs376839366	0.00001
NM_016277.5(RAB23):c.664C>G (p.Gln222Glu)	rs756536052	0.00001
NM_016277.5(RAB23):c.714A>G (p.Ter238=)	rs142290596	0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter)	rs765443042	0.00001
NM_016277.5(RAB23):c.93A>G (p.Lys31=)	rs201735614	0.00001
NM_016277.5(RAB23):c.*117A>G	rs1764790940
NM_016277.5(RAB23):c.-66+5021dup
NM_016277.5(RAB23):c.156-9T>C	rs1380069219
NM_016277.5(RAB23):c.223A>T (p.Thr75Ser)	rs774195943
NM_016277.5(RAB23):c.389G>C (p.Cys130Ser)	rs1485030118
NM_016277.5(RAB23):c.399-14A>T	rs974936952
NM_016277.5(RAB23):c.416T>C (p.Leu139Pro)	rs1593208594
NM_016277.5(RAB23):c.701G>C (p.Cys234Ser)
NM_016277.5(RAB23):c.712T>G (p.Ter238Glu)	rs751619487

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