List of variants in gene PKDCC studied for Rhizomelic limb shortening with dysmorphic features

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_138370.3(PKDCC):c.325T>C (p.Ser109Pro)	rs187184761	0.12973
NM_138370.3(PKDCC):c.785T>G (p.Leu262Arg)	rs373676533	0.00002
NM_138370.3(PKDCC):c.1127G>A (p.Trp376Ter)	rs369267445
NM_138370.3(PKDCC):c.228dup (p.Pro77fs)
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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