List of variants reported as uncertain significance for polydactyly-syndactyly-triphalangism by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_152515.5(CKAP2L):c.1040G>A (p.Arg347Lys)	rs551009951	0.00017
NM_198525.3(KIF7):c.2674C>T (p.Arg892Cys)	rs146368430	0.00006
NM_000142.5(FGFR3):c.1537G>A (p.Asp513Asn)	rs121913112	0.00002
NM_000142.5(FGFR3):c.1537G>T (p.Asp513Tyr)
NM_000168.6(GLI3):c.1627G>A (p.Glu543Lys)	rs121917711
NM_002968.3(SALL1):c.2846A>G (p.Gln949Arg)	rs889576974
NM_002968.3(SALL1):c.3322G>T (p.Val1108Phe)	rs148931484
NM_006486.3(FBLN1):c.1949G>A (p.Arg650His)
NM_024715.4(TXNDC15):c.304G>C (p.Glu102Gln)

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