ClinVar Miner

List of variants in gene GFM1 reported as uncertain significance for Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

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Total variants: 73
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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.960A>C (p.Pro320=) rs145970222 0.00196
NM_024996.7(GFM1):c.220G>T (p.Ala74Ser) rs140377587 0.00155
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.667A>G (p.Ile223Val) rs143446452 0.00081
NM_024996.7(GFM1):c.1343A>G (p.Asp448Gly) rs146951325 0.00080
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.2143A>G (p.Met715Val) rs147620098 0.00034
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.622G>A (p.Glu208Lys) rs191462023 0.00011
NM_024996.7(GFM1):c.*1033A>G rs919876624 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.*578C>T rs758670778 0.00006
NM_024996.7(GFM1):c.1198C>T (p.Arg400Cys) rs374335959 0.00005
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.1383C>T (p.Asn461=) rs774976760 0.00004
NM_024996.7(GFM1):c.596C>T (p.Ala199Val) rs145247687 0.00004
NM_024996.7(GFM1):c.1083+8G>T rs753905803 0.00003
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.344A>G (p.Asn115Ser) rs779253646 0.00002
NM_024996.7(GFM1):c.51C>T (p.Ala17=) rs937454854 0.00002
NM_024996.7(GFM1):c.1118G>A (p.Ser373Asn) rs1023544297 0.00001
NM_024996.7(GFM1):c.1180C>T (p.Arg394Trp) rs183140307 0.00001
NM_024996.7(GFM1):c.1221+20G>A rs1412836196 0.00001
NM_024996.7(GFM1):c.1256C>T (p.Ala419Val) rs1314322801 0.00001
NM_024996.7(GFM1):c.1429G>T (p.Asp477Tyr) rs138058648 0.00001
NM_024996.7(GFM1):c.2165C>T (p.Pro722Leu) rs764933537 0.00001
NM_024996.7(GFM1):c.443T>C (p.Val148Ala) rs758591202 0.00001
NM_024996.7(GFM1):c.607A>G (p.Ile203Val) rs1722079229 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.1209C>A (p.Ala403=)
NM_024996.7(GFM1):c.1384G>T (p.Asp462Tyr) rs200244667
NM_024996.7(GFM1):c.1385A>G (p.Asp462Gly) rs886058121
NM_024996.7(GFM1):c.1396T>C (p.Phe466Leu)
NM_024996.7(GFM1):c.1406G>A (p.Gly469Asp) rs750855220
NM_024996.7(GFM1):c.152T>G (p.Ile51Ser)
NM_024996.7(GFM1):c.1781G>A (p.Cys594Tyr) rs1576790457
NM_024996.7(GFM1):c.1897G>C (p.Ala633Pro)
NM_024996.7(GFM1):c.193C>A (p.Arg65=) rs62286651
NM_024996.7(GFM1):c.221C>G (p.Ala74Gly) rs778603797
NM_024996.7(GFM1):c.2232del (p.Gly747fs) rs863224034
NM_024996.7(GFM1):c.408A>T (p.Arg136Ser) rs1721844379
NM_024996.7(GFM1):c.56C>T (p.Ala19Val) rs567086019
NM_024996.7(GFM1):c.575C>A (p.Ser192Tyr)
NM_024996.7(GFM1):c.616G>T (p.Gly206Cys) rs1722080493
NM_024996.7(GFM1):c.679G>A (p.Gly227Arg)
NM_024996.7(GFM1):c.701G>A (p.Arg234Gln) rs1202361363
NM_024996.7(GFM1):c.754G>A (p.Glu252Lys)
NM_024996.7(GFM1):c.81+5C>T rs886058119
NM_024996.7(GFM1):c.825G>A (p.Ser275=) rs1722357550
NM_024996.7(GFM1):c.830C>T (p.Ser277Phe)
NM_024996.7(GFM1):c.881C>T (p.Pro294Leu) rs1722451256
NM_024996.7(GFM1):c.987C>A (p.Leu329=) rs531887279

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