ClinVar Miner

List of variants studied for Renpenning syndrome by OMIM

Included ClinVar conditions (1):
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Total variants: 7
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NM_005710.2(PQBP1):c.194A>G (p.Tyr65Cys) rs121917899
NM_005710.2(PQBP1):c.334_354del (p.Gly113_Arg119del) rs606231198
NM_005710.2(PQBP1):c.451_452AG[5] (p.Glu154fs) rs606231193
NM_005710.2(PQBP1):c.547_569del (p.Glu183fs) rs606231197
NM_005710.2(PQBP1):c.640dup (p.Arg214fs) rs606231196
NM_144495.2(PQBP1):c.293-341AG[4] rs606231193
NM_144495.2(PQBP1):c.293-341AG[7] rs606231193

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