ClinVar Miner

List of variants reported as pathogenic for Short-rib thoracic dysplasia 8 with or without polydactyly

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_018051.5(DYNC2I1):c.2246C>T (p.Thr749Met) rs587777065 0.00002
NM_018051.5(DYNC2I1):c.1321C>T (p.Arg441Ter) rs766663693 0.00001
NM_018051.5(DYNC2I1):c.1924C>T (p.Arg642Ter) rs752109819 0.00001
NM_018051.5(DYNC2I1):c.682C>T (p.Arg228Ter) rs752596216 0.00001
NC_000007.13:g.(?_158677235)_(158677330_?)del
NM_018051.5(DYNC2I1):c.1703-3T>A rs587777066
NM_018051.5(DYNC2I1):c.1891C>T (p.Gln631Ter) rs587777064
NM_018051.5(DYNC2I1):c.2378dup (p.Gly794fs)
NM_018051.5(DYNC2I1):c.378_381del (p.Asp126fs)
NM_018051.5(DYNC2I1):c.527_528del (p.Asp175_Ser176insTer)
NM_018051.5(DYNC2I1):c.562C>T (p.Arg188Ter) rs750540944
NM_018051.5(DYNC2I1):c.712_715del (p.Glu238fs)
NM_018051.5(DYNC2I1):c.778C>T (p.Arg260Ter)
NM_018051.5(DYNC2I1):c.975dup (p.Asp326fs) rs1844679510

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