List of variants reported as uncertain significance for polydactyly-syndactyly-triphalangism by Revvity Omics, Revvity

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_006486.3(FBLN1):c.1685G>A (p.Arg562His)	rs146772136	0.00025
NM_002968.3(SALL1):c.3199C>T (p.Leu1067Phe)	rs1375814966	0.00003
NM_152515.5(CKAP2L):c.1621A>G (p.Ile541Val)	rs750566749	0.00002
NM_002968.3(SALL1):c.104G>T (p.Arg35Leu)
NM_002968.3(SALL1):c.2269C>T (p.Arg757Cys)
NM_002968.3(SALL1):c.3245C>T (p.Ser1082Leu)
NM_005631.5(SMO):c.1798G>A (p.Val600Met)
NM_152515.5(CKAP2L):c.1024G>A (p.Gly342Ser)
NM_152515.5(CKAP2L):c.1283A>G (p.Gln428Arg)

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