List of variants in gene DYNC2H1 reported as likely pathogenic for Short-rib thoracic dysplasia 6 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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro)	rs771487311	0.00007
NM_001377.3(DYNC2H1):c.10042+2T>G	rs1261505725	0.00002
NM_001377.3(DYNC2H1):c.12896G>A (p.Gly4299Glu)	rs770569272	0.00001

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