List of variants reported as pathogenic for Hennekam syndrome by OMIM

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys)	rs121908253	0.00019
NM_001291303.3(FAT4):c.12851C>T (p.Ser4284Phe)	rs199682210	0.00013
NM_133459.4(CCBE1):c.223T>A (p.Cys75Ser)	rs121908250	0.00007
NM_133459.4(CCBE1):c.683_684insT (p.Leu229fs)	rs563023244	0.00007
NM_133459.4(CCBE1):c.520T>C (p.Cys174Arg)	rs121908254	0.00002
NM_014243.3(ADAMTS3):c.280C>T (p.Arg94Ter)	rs747975445	0.00001
NM_014243.3(ADAMTS3):c.503T>C (p.Leu168Pro)	rs1177851177	0.00001
NM_001291303.3(FAT4):c.1195del (p.Leu399fs)	rs587777725
NM_001291303.3(FAT4):c.7035TGGAAC[3] (p.2346GT[3])	rs587777724
NM_001291303.3(FAT4):c.7123G>A (p.Glu2375Lys)	rs398122955
NM_001291303.3(FAT4):c.7204A>C (p.Arg2402=)	rs587777726
NM_014243.3(ADAMTS3):c.872T>C (p.Ile291Thr)	rs61757480
NM_133459.4(CCBE1):c.305G>C (p.Cys102Ser)	rs121908251
NM_133459.4(CCBE1):c.979G>C (p.Gly327Arg)	rs121908252

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