List of variants in gene SERAC1 reported as likely pathogenic for 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter)	rs1220930025	0.00006
NM_032861.4(SERAC1):c.1763del (p.Val588fs)	rs770661156	0.00004
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr)	rs201941476	0.00003
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter)	rs529232938	0.00002
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)	rs387907236	0.00002
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs)	rs797045105	0.00001
NM_032861.4(SERAC1):c.1167_1170del	rs772296795
NM_032861.4(SERAC1):c.1228T>C (p.Trp410Arg)
NM_032861.4(SERAC1):c.1684+1G>T	rs2128410576
NM_032861.4(SERAC1):c.1684+2T>C
NM_032861.4(SERAC1):c.1822_1828+10delinsACCAACAGG	rs1554260851
NM_032861.4(SERAC1):c.308_311del (p.Arg103fs)	rs1785136807
NM_032861.4(SERAC1):c.698T>A (p.Leu233Ter)	rs1583589537
NM_032861.4(SERAC1):c.91+6T>C	rs1554265452
NM_032861.4(SERAC1):c.92-13_92-10del	rs779302645

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