List of variants reported as pathogenic for acquired metabolic disease by OMIM

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
FGFR3, FGFR3/IGH FUSION
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu)	rs78311289
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)	rs121913482
NM_002641.4(PIGA):c.1115del (p.Pro372fs)	rs587776725
NM_002641.4(PIGA):c.1188+1G>A	rs2147717286
NM_002641.4(PIGA):c.1188+2del	rs587776723
NM_002641.4(PIGA):c.1323_1324del (p.Leu442fs)	rs587776728
NM_002641.4(PIGA):c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA (p.Asp452delinsGluIleGluMetAspAspSerArgPheTyrHisTer)	rs786200912
NM_002641.4(PIGA):c.163C>T (p.Gln55Ter)	rs199422233
NM_002641.4(PIGA):c.249_250insGT (p.Thr84fs)	rs587776726
NM_002641.4(PIGA):c.294C>A (p.Tyr98Ter)	rs199422232
NM_002641.4(PIGA):c.431del (p.Thr144fs)	rs587776727
NM_002641.4(PIGA):c.459_460insA (p.His154fs)	rs587776724

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