List of variants reported as uncertain significance for Carpenter syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_016277.5(RAB23):c.346A>G (p.Thr116Ala)	rs138803099	0.00015
NM_016277.5(RAB23):c.25G>A (p.Ala9Thr)	rs150655349	0.00013
NM_016277.5(RAB23):c.90C>G (p.Cys30Trp)	rs776515230	0.00005
NM_016277.5(RAB23):c.670A>T (p.Thr224Ser)	rs748638791	0.00004
NM_016277.5(RAB23):c.481+4A>C	rs747225405	0.00003
NM_016277.5(RAB23):c.607G>A (p.Gly203Ser)	rs763116254	0.00002
NM_016277.5(RAB23):c.14A>T (p.Asp5Val)	rs1327720346	0.00001
NM_016277.5(RAB23):c.244G>C (p.Ala82Pro)	rs766250966	0.00001
NM_016277.5(RAB23):c.317_322del (p.Lys106_Val108delinsIle)	rs1168872090
NM_016277.5(RAB23):c.337G>A (p.Asp113Asn)	rs748398827
NM_016277.5(RAB23):c.522dup (p.Gln175fs)	rs2533175452
NM_016277.5(RAB23):c.590C>T (p.Ser197Phe)	rs2127996379
NM_016277.5(RAB23):c.712T>G (p.Ter238Glu)	rs751619487

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