List of variants reported as pathogenic for polydactyly-syndactyly-triphalangism by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)	rs386834153	0.00013
NM_152515.5(CKAP2L):c.1822+1G>A	rs1680053234

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