List of variants in gene DYNC2I1 reported as likely pathogenic for Short-rib thoracic dysplasia 8 with or without polydactyly

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_018051.5(DYNC2I1):c.1162del (p.Cys388fs)	rs1554460624
NM_018051.5(DYNC2I1):c.772_775del (p.Glu258fs)	rs1843823774
NM_018051.5(DYNC2I1):c.898C>T (p.Arg300Ter)	rs780061154
NM_018051.5(DYNC2I1):c.899G>T (p.Arg300Leu)	rs899172501

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