ClinVar Miner

List of variants reported as uncertain significance for Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 by Illumina Laboratory Services, Illumina

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_024996.7(GFM1):c.2190C>T (p.Asp730=) rs149049400 0.00196
NM_024996.7(GFM1):c.*950C>T rs372706819 0.00124
NM_024996.7(GFM1):c.690-5C>G rs201685981 0.00124
NM_024996.7(GFM1):c.*1004T>C rs190120734 0.00117
NM_024996.7(GFM1):c.1324-15T>A rs375168014 0.00057
NM_024996.7(GFM1):c.235-14G>A rs201304690 0.00053
NM_024996.7(GFM1):c.-38C>T rs377352238 0.00037
NM_024996.7(GFM1):c.1032C>T (p.Asn344=) rs373952002 0.00036
NM_024996.7(GFM1):c.1494A>G (p.Glu498=) rs149454742 0.00029
NM_024996.7(GFM1):c.1831C>T (p.Leu611=) rs190393538 0.00026
NM_024996.7(GFM1):c.1305C>G (p.Ala435=) rs141368418 0.00023
NM_024996.7(GFM1):c.373G>A (p.Val125Met) rs200923387 0.00023
NM_024996.7(GFM1):c.*429C>T rs914802350 0.00012
NM_024996.7(GFM1):c.*1033A>G rs919876624 0.00010
NM_024996.7(GFM1):c.*578C>T rs758670778 0.00010
NM_024996.7(GFM1):c.1948A>G (p.Met650Val) rs147847472 0.00008
NM_024996.7(GFM1):c.*164C>A rs924668466 0.00006
NM_024996.7(GFM1):c.234+12C>T rs372189223 0.00005
NM_024996.7(GFM1):c.702A>G (p.Arg234=) rs377418512 0.00005
NM_024996.7(GFM1):c.596C>T (p.Ala199Val) rs145247687 0.00004
NM_024996.7(GFM1):c.1852A>G (p.Met618Val) rs767798328 0.00003
NM_024996.7(GFM1):c.*119G>A rs886058122 0.00002
NM_024996.7(GFM1):c.*559T>C rs886058124 0.00002
NM_024996.7(GFM1):c.1118G>A (p.Ser373Asn) rs1023544297 0.00001
NM_024996.7(GFM1):c.1910-1G>A rs1462851267 0.00001
NM_024996.7(GFM1):c.424del (p.Val142fs) rs886058120 0.00001
NM_024996.7(GFM1):c.897C>T (p.Ser299=) rs763546447 0.00001
NM_024996.7(GFM1):c.*245A>C rs886058123
NM_024996.7(GFM1):c.*572A>G rs1726365121
NM_024996.7(GFM1):c.*635A>T rs1398384267
NM_024996.7(GFM1):c.*803T>C rs1726381360
NM_024996.7(GFM1):c.-66C>G rs564879457
NM_024996.7(GFM1):c.-85C>T rs893145449
NM_024996.7(GFM1):c.1083+3A>G rs187690169
NM_024996.7(GFM1):c.1385A>G (p.Asp462Gly) rs886058121
NM_024996.7(GFM1):c.1406G>A (p.Gly469Asp) rs750855220
NM_024996.7(GFM1):c.1518+1G>A rs1560135491
NM_024996.7(GFM1):c.193C>A (p.Arg65=) rs62286651
NM_024996.7(GFM1):c.56C>T (p.Ala19Val) rs567086019
NM_024996.7(GFM1):c.701G>A (p.Arg234Gln) rs1202361363
NM_024996.7(GFM1):c.81+5C>T rs886058119
NM_024996.7(GFM1):c.829dup (p.Ser277fs) rs771865940
NM_024996.7(GFM1):c.987C>A (p.Leu329=) rs531887279

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