List of variants reported as pathogenic for Trichohepatoneurodevelopmental syndrome

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_020198.3(CCDC47):c.1145del (p.Leu382fs)	rs750123815	0.00003
NM_020198.3(CCDC47):c.1189C>T (p.Arg397Ter)	rs1269750663	0.00001
NM_020198.3(CCDC47):c.811C>T (p.Arg271Ter)	rs749027804	0.00001
NM_020198.3(CCDC47):c.1165del (p.Ser389fs)	rs1568246398
NM_020198.3(CCDC47):c.563del (p.Asn188fs)	rs1319907329

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