List of variants in gene DYNC2I1 reported as pathogenic for ciliopathy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_018051.5(DYNC2I1):c.1777C>T (p.Arg593Trp)	rs776300442	0.00005
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys)	rs193204571	0.00004
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.2284C>T (p.Arg762Ter)	rs1456300819	0.00001
NM_018051.5(DYNC2I1):c.2841del (p.Gln947fs)	rs748645101	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.2503_2505dup (p.Arg835dup)	rs1554478948
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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