List of variants reported as pathogenic for Renpenning syndrome by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001032382.2(PQBP1):c.194A>G (p.Tyr65Cys)	rs121917899
NM_001032382.2(PQBP1):c.292+1G>A	rs2147472456
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs)	rs606231193
NM_001032382.2(PQBP1):c.461_462dup (p.Arg155fs)	rs606231193
NM_001032382.2(PQBP1):c.575_576del (p.Lys192fs)	rs2147475642
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter)	rs1557041672
NM_001032382.2(PQBP1):c.640dup (p.Arg214fs)	rs606231196

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