ClinVar Miner

List of variants reported as uncertain significance for Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 by Natera, Inc.

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Total variants: 18
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HGVS dbSNP gnomAD frequency
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.667A>G (p.Ile223Val) rs143446452 0.00081
NM_024996.7(GFM1):c.2143A>G (p.Met715Val) rs147620098 0.00034
NM_024996.7(GFM1):c.1305C>G (p.Ala435=) rs141368418 0.00023
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys) rs191462023 0.00011
NM_024996.7(GFM1):c.1198C>T (p.Arg400Cys) rs374335959 0.00005
NM_024996.7(GFM1):c.1083+8G>T rs753905803 0.00003
NM_024996.7(GFM1):c.51C>T (p.Ala17=) rs937454854 0.00002
NM_024996.7(GFM1):c.1180C>T (p.Arg394Trp) rs183140307 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.221C>G (p.Ala74Gly) rs778603797
NM_024996.7(GFM1):c.2232del (p.Gly747fs) rs863224034
NM_024996.7(GFM1):c.616G>T (p.Gly206Cys) rs1722080493
NM_024996.7(GFM1):c.825G>A (p.Ser275=) rs1722357550

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