ClinVar Miner

List of variants in gene PROP1 reported by OMIM

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile) rs121917840 0.00010
NM_006261.5(PROP1):c.150del (p.Arg53fs) rs587776683 0.00006
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys) rs121917839 0.00005
NM_006261.5(PROP1):c.217C>T (p.Arg73Cys) rs121917843 0.00003
NM_006261.5(PROP1):c.295C>T (p.Arg99Ter) rs121917844 0.00003
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln) rs137853100 0.00002
NM_006261.5(PROP1):c.218G>A (p.Arg73His) rs121917842 0.00001
NM_006261.5(PROP1):c.112_124del (p.Ser38fs) rs587776682
NM_006261.5(PROP1):c.150_151del (p.Gly52fs) rs587776681
NM_006261.5(PROP1):c.263T>C (p.Phe88Ser) rs121917841
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_006261.5(PROP1):c.582G>A (p.Trp194Ter) rs121917845

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