ClinVar Miner

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

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Total variants: 3
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HGVS dbSNP
NM_016004.5(IFT52):c.424C>T (p.Arg142Ter) rs748090019
NM_016004.5(IFT52):c.595G>A (p.Ala199Thr) rs886037869
NM_016004.5(IFT52):c.878del (p.Leu293fs) rs886037870

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