ClinVar Miner

List of variants reported as likely pathogenic for Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter) rs202247807 0.00006
NM_014252.4(SLC25A15):c.815C>T (p.Thr272Ile) rs121908535 0.00004
NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys) rs104894424 0.00002
NM_014252.4(SLC25A15):c.44C>T (p.Ala15Val) rs202247806 0.00001
NM_014252.4(SLC25A15):c.824G>A (p.Arg275Gln) rs104894431 0.00001
NM_014252.4(SLC25A15):c.-69-41_55+58del
NM_014252.4(SLC25A15):c.169C>T (p.Gln57Ter)
NM_014252.4(SLC25A15):c.172del (p.Val58fs)
NM_014252.4(SLC25A15):c.208_209delinsTT (p.Ala70Leu) rs1064793683
NM_014252.4(SLC25A15):c.212T>A (p.Leu71Gln) rs121908534
NM_014252.4(SLC25A15):c.236C>G (p.Ser79Ter) rs2138045987
NM_014252.4(SLC25A15):c.315-1G>A rs2138053997
NM_014252.4(SLC25A15):c.315-2A>C
NM_014252.4(SLC25A15):c.31_55del (p.Ile11fs)
NM_014252.4(SLC25A15):c.326del (p.Asn109fs)
NM_014252.4(SLC25A15):c.331_335del (p.Ala111fs)
NM_014252.4(SLC25A15):c.337G>T (p.Gly113Cys) rs199894905
NM_014252.4(SLC25A15):c.338G>T (p.Gly113Val) rs2138054088
NM_014252.4(SLC25A15):c.357del (p.Phe119fs)
NM_014252.4(SLC25A15):c.391_395del (p.Lys131fs)
NM_014252.4(SLC25A15):c.408del (p.Met137fs) rs780201405
NM_014252.4(SLC25A15):c.429_430del (p.Gly144fs)
NM_014252.4(SLC25A15):c.446del (p.Ser149fs) rs1566123619
NM_014252.4(SLC25A15):c.452+1del
NM_014252.4(SLC25A15):c.452+2T>C rs1882127556
NM_014252.4(SLC25A15):c.453-2A>C
NM_014252.4(SLC25A15):c.498del (p.Leu167fs) rs2138056689
NM_014252.4(SLC25A15):c.514G>T (p.Gly172Ter) rs1480063127
NM_014252.4(SLC25A15):c.530T>A (p.Leu177Ter)
NM_014252.4(SLC25A15):c.554_557del (p.Phe185fs) rs1882233400
NM_014252.4(SLC25A15):c.56-1G>A
NM_014252.4(SLC25A15):c.564C>G (p.Phe188Leu) rs141028076
NM_014252.4(SLC25A15):c.622+1G>A rs957788324
NM_014252.4(SLC25A15):c.658G>A (p.Gly220Arg) rs202247805

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