List of variants reported as pathogenic for autosomal recessive disease by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	rs141138948	0.00048
NM_017807.4(OSGEP):c.974G>A (p.Arg325Gln)	rs753237335	0.00003
NM_000391.4(TPP1):c.89+1G>A	rs1855631590
NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter)	rs2051507892
NM_025074.7(FRAS1):c.10820C>G (p.Ser3607Ter)	rs1006839535
NM_025074.7(FRAS1):c.11897dup (p.Asn3967fs)	rs1560433104
NM_032490.5(GON7):c.21C>A (p.Tyr7Ter)	rs1218573239

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