ClinVar Miner

List of variants studied for Renpenning syndrome by Baylor Genetics

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001032382.2(PQBP1):c.541C>T (p.Arg181Trp) rs782792216 0.00004
NM_001032382.2(PQBP1):c.671G>A (p.Arg224Gln) rs1249414837 0.00002
NM_001032382.2(PQBP1):c.32T>C (p.Leu11Ser) rs2063344708
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_001032382.2(PQBP1):c.640dup (p.Arg214fs) rs606231196
NM_001032382.2(PQBP1):c.643G>C (p.Gly215Arg) rs1557041816
NM_001032382.2(PQBP1):c.784A>G (p.Lys262Glu) rs1569510706

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