ClinVar Miner

List of variants reported as pathogenic for Short-rib thoracic dysplasia 1 with or without polydactyly by David Geffen School of Medicine,University of California, Los Angeles

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Total variants: 5
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NM_016008.4(DYNC2LI1):c.1000G>T (p.Glu334Ter) rs879255655
NM_016008.4(DYNC2LI1):c.349C>G (p.Leu117Val) rs201948500
NM_016008.4(DYNC2LI1):c.372G>A (p.Trp124Ter) rs769975073
NM_016008.4(DYNC2LI1):c.993+1G>A rs374356079
NM_016008.4(DYNC2LI1):c.993+3A>G rs879255656

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