List of variants in gene DCDC2 reported as pathogenic for cholangitis

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_016356.5(DCDC2):c.349-2A>G	rs760040426	0.00003
NM_016356.5(DCDC2):c.942del (p.Gly315fs)	rs1554144869	0.00002
NM_016356.5(DCDC2):c.890T>A (p.Leu297Ter)	rs1050411259	0.00001
NM_016356.4(DCDC2):c.426_557del
NM_016356.5(DCDC2):c.294-2A>G	rs1554121105
NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter)	rs904520404
NM_016356.5(DCDC2):c.529dup (p.Ile177fs)	rs904944428
NM_016356.5(DCDC2):c.536_537del (p.Leu179fs)	rs2113838075
NM_016356.5(DCDC2):c.649A>T (p.Lys217Ter)	rs730880299
NM_016356.5(DCDC2):c.705-2A>G
NM_016356.5(DCDC2):c.970dup (p.Ala324fs)	rs774115675

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