List of variants reported as uncertain significance for 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome by Invitae

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 105

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HGVS	dbSNP	gnomAD frequency
NM_032861.4(SERAC1):c.1404-3C>G	rs367596327	0.00045
NM_032861.4(SERAC1):c.1259T>C (p.Ile420Thr)	rs114741005	0.00036
NM_032861.4(SERAC1):c.1660T>G (p.Leu554Val)	rs149034301	0.00036
NM_032861.4(SERAC1):c.91A>G (p.Arg31Gly)	rs146896149	0.00034
NM_032861.4(SERAC1):c.1688C>G (p.Ser563Cys)	rs146410859	0.00024
NM_032861.4(SERAC1):c.1483A>C (p.Ile495Leu)	rs370591885	0.00014
NM_032861.4(SERAC1):c.1538C>T (p.Thr513Met)	rs143065058	0.00014
NM_032861.4(SERAC1):c.391T>C (p.Cys131Arg)	rs147085187	0.00013
NM_032861.4(SERAC1):c.583C>T (p.Pro195Ser)	rs546374310	0.00009
NM_032861.4(SERAC1):c.1084A>T (p.Ile362Phe)	rs537530231	0.00008
NM_032861.4(SERAC1):c.418A>G (p.Ser140Gly)	rs370340688	0.00008
NM_032861.4(SERAC1):c.1640G>A (p.Arg547His)	rs756639108	0.00004
NM_032861.4(SERAC1):c.1763del (p.Val588fs)	rs770661156	0.00004
NM_032861.4(SERAC1):c.413G>A (p.Arg138Gln)	rs863224200	0.00004
NM_032861.4(SERAC1):c.524C>T (p.Pro175Leu)	rs536508664	0.00004
NM_032861.4(SERAC1):c.553G>A (p.Glu185Lys)	rs543967244	0.00004
NM_032861.4(SERAC1):c.674A>G (p.Glu225Gly)	rs375757326	0.00004
NM_032861.4(SERAC1):c.69T>G (p.Ser23Arg)	rs754908475	0.00004
NM_032861.4(SERAC1):c.855A>G (p.Ile285Met)	rs745441822	0.00004
NM_032861.4(SERAC1):c.1292C>T (p.Thr431Met)	rs779852958	0.00003
NM_032861.4(SERAC1):c.329C>T (p.Ala110Val)	rs368403843	0.00003
NM_032861.4(SERAC1):c.1270A>G (p.Met424Val)	rs367903368	0.00002
NM_032861.4(SERAC1):c.1642T>C (p.Tyr548His)	rs1331741437	0.00002
NM_032861.4(SERAC1):c.1846C>A (p.Leu616Ile)	rs780572089	0.00002
NM_032861.4(SERAC1):c.487+5T>C	rs748641688	0.00002
NM_032861.4(SERAC1):c.932G>T (p.Cys311Phe)	rs1449129513	0.00002
NM_032861.4(SERAC1):c.1169A>G (p.Gln390Arg)	rs779061767	0.00001
NM_032861.4(SERAC1):c.1295C>T (p.Thr432Met)	rs780982964	0.00001
NM_032861.4(SERAC1):c.1403+5C>G	rs770722498	0.00001
NM_032861.4(SERAC1):c.1501+6T>G	rs760987565	0.00001
NM_032861.4(SERAC1):c.1535C>T (p.Ser512Phe)	rs751450632	0.00001
NM_032861.4(SERAC1):c.1537A>G (p.Thr513Ala)	rs201367107	0.00001
NM_032861.4(SERAC1):c.1685-3C>T	rs367733861	0.00001
NM_032861.4(SERAC1):c.1725_1727dup (p.Glu575_Phe576insLeu)	rs1478893955	0.00001
NM_032861.4(SERAC1):c.1762G>A (p.Val588Met)	rs756012789	0.00001
NM_032861.4(SERAC1):c.1765G>A (p.Glu589Lys)	rs1020569740	0.00001
NM_032861.4(SERAC1):c.1915C>T (p.Arg639Cys)	rs575982148	0.00001
NM_032861.4(SERAC1):c.326C>T (p.Ser109Leu)	rs1258024323	0.00001
NM_032861.4(SERAC1):c.677G>T (p.Cys226Phe)	rs1243289662	0.00001
NM_032861.4(SERAC1):c.87T>G (p.Asp29Glu)	rs1404505029	0.00001
NM_032861.4(SERAC1):c.1003A>G (p.Ile335Val)
NM_032861.4(SERAC1):c.1009C>T (p.Arg337Cys)
NM_032861.4(SERAC1):c.1166G>A (p.Ser389Asn)
NM_032861.4(SERAC1):c.118C>T (p.Leu40Phe)
NM_032861.4(SERAC1):c.1195A>G (p.Ile399Val)
NM_032861.4(SERAC1):c.1203C>A (p.Gly401=)
NM_032861.4(SERAC1):c.1272G>A (p.Met424Ile)
NM_032861.4(SERAC1):c.1308+6G>A
NM_032861.4(SERAC1):c.1334C>A (p.Ala445Asp)	rs553879407
NM_032861.4(SERAC1):c.1364C>G (p.Thr455Ser)	rs767870142
NM_032861.4(SERAC1):c.1365C>T (p.Thr455=)
NM_032861.4(SERAC1):c.1374C>T (p.Ser458=)
NM_032861.4(SERAC1):c.1375G>A (p.Asp459Asn)	rs189064007
NM_032861.4(SERAC1):c.1396A>G (p.Met466Val)
NM_032861.4(SERAC1):c.1491T>A (p.His497Gln)	rs1064796860
NM_032861.4(SERAC1):c.1501+4A>C	rs755406082
NM_032861.4(SERAC1):c.1501+4A>G	rs755406082
NM_032861.4(SERAC1):c.1501+5G>A
NM_032861.4(SERAC1):c.1505T>G (p.Leu502Arg)	rs2128410682
NM_032861.4(SERAC1):c.1519_1521dup (p.Met507_Leu508insMet)
NM_032861.4(SERAC1):c.152A>G (p.Glu51Gly)
NM_032861.4(SERAC1):c.1628C>T (p.Ser543Phe)
NM_032861.4(SERAC1):c.1720C>G (p.Leu574Val)
NM_032861.4(SERAC1):c.1766A>C (p.Glu589Ala)
NM_032861.4(SERAC1):c.1793T>C (p.Met598Thr)
NM_032861.4(SERAC1):c.1825G>A (p.Ala609Thr)
NM_032861.4(SERAC1):c.1829-6C>G
NM_032861.4(SERAC1):c.1839T>A (p.Ile613=)
NM_032861.4(SERAC1):c.1916G>A (p.Arg639His)	rs768913919
NM_032861.4(SERAC1):c.1916G>C (p.Arg639Pro)	rs768913919
NM_032861.4(SERAC1):c.1926_1930del (p.Gln642fs)
NM_032861.4(SERAC1):c.1934G>A (p.Arg645His)
NM_032861.4(SERAC1):c.194T>C (p.Val65Ala)
NM_032861.4(SERAC1):c.1962C>G (p.Asn654Lys)	rs1784140439
NM_032861.4(SERAC1):c.1963_*1del (p.Ter655SerextTer?)
NM_032861.4(SERAC1):c.1965A>G (p.Ter655=)
NM_032861.4(SERAC1):c.203G>A (p.Arg68Gln)	rs1384614641
NM_032861.4(SERAC1):c.206A>G (p.Glu69Gly)	rs2128422343
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp)	rs139301835
NM_032861.4(SERAC1):c.254G>A (p.Gly85Glu)	rs376468988
NM_032861.4(SERAC1):c.301G>A (p.Ala101Thr)
NM_032861.4(SERAC1):c.340C>T (p.Arg114Trp)
NM_032861.4(SERAC1):c.341G>A (p.Arg114Gln)
NM_032861.4(SERAC1):c.412C>T (p.Arg138Trp)
NM_032861.4(SERAC1):c.429T>A (p.Asp143Glu)
NM_032861.4(SERAC1):c.44G>A (p.Gly15Glu)	rs1785406112
NM_032861.4(SERAC1):c.458G>A (p.Arg153Gln)
NM_032861.4(SERAC1):c.488-3T>G	rs2128420377
NM_032861.4(SERAC1):c.536T>C (p.Ile179Thr)
NM_032861.4(SERAC1):c.566T>C (p.Leu189Pro)
NM_032861.4(SERAC1):c.566T>G (p.Leu189Arg)	rs576602246
NM_032861.4(SERAC1):c.568C>T (p.Arg190Cys)	rs564717592
NM_032861.4(SERAC1):c.719A>G (p.Gln240Arg)
NM_032861.4(SERAC1):c.734A>G (p.Gln245Arg)
NM_032861.4(SERAC1):c.738+5G>C
NM_032861.4(SERAC1):c.772C>T (p.Pro258Ser)	rs571113650
NM_032861.4(SERAC1):c.808A>G (p.Thr270Ala)
NM_032861.4(SERAC1):c.819G>A (p.Met273Ile)
NM_032861.4(SERAC1):c.821T>C (p.Phe274Ser)
NM_032861.4(SERAC1):c.863A>C (p.His288Pro)
NM_032861.4(SERAC1):c.86A>G (p.Asp29Gly)	rs779737059
NM_032861.4(SERAC1):c.871A>G (p.Lys291Glu)
NM_032861.4(SERAC1):c.931T>C (p.Cys311Arg)	rs2128415147
NM_032861.4(SERAC1):c.940G>T (p.Val314Leu)
NM_032861.4(SERAC1):c.958C>T (p.Arg320Cys)

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