ClinVar Miner

List of variants reported as benign for Rhizomelic limb shortening with dysmorphic features by Genome-Nilou Lab

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_138370.3(PKDCC):c.480T>C (p.Gly160=)	rs11897440	0.53422
NM_138370.3(PKDCC):c.387C>G (p.Arg129=)	rs11891679	0.26365
NM_138370.3(PKDCC):c.325T>C (p.Ser109Pro)	rs187184761	0.12973

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