List of variants reported as likely pathogenic for Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81 by Fulgent Genetics, Fulgent Genetics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001102564.3(IFT43):c.328C>T (p.Gln110Ter)	rs201794999	0.00007
NM_001102564.3(IFT43):c.214_215+2del	rs777112610	0.00001
NM_001102564.3(IFT43):c.164T>A (p.Leu55Ter)
NM_001102564.3(IFT43):c.175C>T (p.Arg59Ter)
NM_001102564.3(IFT43):c.20T>A (p.Leu7Ter)
NM_001102564.3(IFT43):c.296-5686_296-5685del
NM_001102564.3(IFT43):c.368+1G>A
NM_001102564.3(IFT43):c.477del (p.Val160fs)
NM_001102564.3(IFT43):c.55del (p.Arg19fs)

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