ClinVar Miner

List of variants reported as pathogenic for Renpenning syndrome

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001032382.2(PQBP1):c.175_178del (p.Ser59fs) rs2147468376
NM_001032382.2(PQBP1):c.194A>G (p.Tyr65Cys) rs121917899
NM_001032382.2(PQBP1):c.292+1G>A rs2147472456
NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del) rs606231198
NM_001032382.2(PQBP1):c.457_459del (p.Arg153del)
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs) rs606231193
NM_001032382.2(PQBP1):c.461_462del (p.Glu154fs) rs606231193
NM_001032382.2(PQBP1):c.461_462dup (p.Arg155fs) rs606231193
NM_001032382.2(PQBP1):c.463C>T (p.Arg155Ter) rs1602330420
NM_001032382.2(PQBP1):c.547_569del (p.Glu183fs) rs606231197
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.599_600del (p.Glu200fs) rs1602332039
NM_001032382.2(PQBP1):c.640dup (p.Arg214fs) rs606231196

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