List of variants reported as pathogenic for autosomal recessive disease by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)	rs5030853	0.00034
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter)	rs200667343	0.00007
NM_016356.5(DCDC2):c.349-2A>G	rs760040426	0.00003
NM_000441.2(SLC26A4):c.164+1del	rs786204504
NM_002618.4(PEX13):c.367G>T (p.Glu123Ter)	rs2104803395
NM_006765.4(TUSC3):c.420dup (p.Gln141fs)	rs773426468
NM_012233.3(RAB3GAP1):c.748+1G>A	rs587776651
NM_033629.6(TREX1):c.144dup (p.Thr49fs)	rs748914604

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