List of variants reported as likely pathogenic for Carpenter syndrome

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_016277.5(RAB23):c.145C>T (p.Arg49Ter)	rs1049674573	0.00001
NC_000019.9:g.(42830583_42837756)_(42838366_42839186)del
NM_001271938.2(MEGF8):c.1741C>T (p.Gln581Ter)
NM_001271938.2(MEGF8):c.7005+1G>T	rs1224632697
NM_001271938.2(MEGF8):c.7024G>T (p.Glu2342Ter)
NM_016277.5(RAB23):c.156-1G>C	rs373724159
NM_016277.5(RAB23):c.174_241+587delinsTTATCATTAA
NM_016277.5(RAB23):c.358_398+177delinsGGTGTACAGTTG	rs2127998544
NM_016277.5(RAB23):c.481+1G>A
NM_016277.5(RAB23):c.482-1_486del	rs2127997697

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