List of variants reported as pathogenic for Short-rib thoracic dysplasia 16 with or without polydactyly by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_016004.5(IFT52):c.293A>G (p.Asn98Ser)	rs530999984	0.00001
NM_016004.5(IFT52):c.424C>T (p.Arg142Ter)	rs748090019	0.00001
NM_016004.5(IFT52):c.595G>A (p.Ala199Thr)	rs886037869	0.00001
NM_016004.5(IFT52):c.556A>G (p.Thr186Ala)	rs1983651325
NM_016004.5(IFT52):c.695_699delinsCA (p.Ile232_Met233delinsThr)	rs1984074001
NM_016004.5(IFT52):c.878del (p.Leu293fs)	rs886037870

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