List of variants reported as pathogenic for trichorhinophalangeal syndrome type I by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_014112.5(TRPS1):c.1053C>A (p.Cys351Ter)	rs121908430
NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter)	rs121908431
NM_014112.5(TRPS1):c.2445dup (p.Ser816fs)	rs2130444636
NM_014112.5(TRPS1):c.2480dup (p.Thr828fs)	rs2130444402
NM_014112.5(TRPS1):c.2557C>T (p.Arg853Ter)	rs121908432
NM_014112.5(TRPS1):c.2893C>T (p.Arg965Cys)	rs28939069
NM_014112.5(TRPS1):c.2894G>A (p.Arg965His)	rs28939070
NM_014112.5(TRPS1):c.3315C>G (p.Tyr1105Ter)	rs121908434
NM_014112.5(TRPS1):c.3400_3401insGAGG (p.Val1134fs)	rs2129748003

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