ClinVar Miner

List of variants reported as likely pathogenic for Perrault syndrome 3

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006012.2(CLPP):c.-995_270+222del
NM_006012.4(CLPP):c.173T>G (p.Leu58Arg) rs980193170
NM_006012.4(CLPP):c.233G>C (p.Arg78Pro) rs1599193093
NM_006012.4(CLPP):c.262A>T (p.Met88Leu)
NM_006012.4(CLPP):c.299T>C (p.Ile100Thr) rs2145048931
NM_006012.4(CLPP):c.439T>A (p.Cys147Ser) rs2091852209
NM_006012.4(CLPP):c.484G>A (p.Gly162Ser)

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