List of variants in gene PKDCC reported as pathogenic for Rhizomelic limb shortening with dysmorphic features

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_138370.3(PKDCC):c.785T>G (p.Leu262Arg)	rs373676533	0.00002
NM_138370.3(PKDCC):c.290_320del (p.Leu97fs)
NM_138370.3(PKDCC):c.651C>A (p.Tyr217Ter)	rs761532715
NM_138370.3(PKDCC):c.939dup (p.Leu314fs)

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