List of variants in gene TSFM reported as likely pathogenic for Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 46

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HGVS	dbSNP	gnomAD frequency
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter)	rs201754030	0.00136
NM_005726.6(TSFM):c.944G>A (p.Cys315Tyr)	rs587777688	0.00004
NM_005726.6(TSFM):c.557T>A (p.Leu186Ter)	rs373811833	0.00002
NM_005726.6(TSFM):c.403C>T (p.Gln135Ter)	rs751169823	0.00001
NM_005726.6(TSFM):c.551del (p.Asp184fs)	rs779144962	0.00001
NM_005726.6(TSFM):c.571+1G>C	rs750371292	0.00001
NM_005726.6(TSFM):c.58-2A>G	rs1346981321	0.00001
NM_005726.6(TSFM):c.601C>T (p.Arg201Ter)	rs768320625	0.00001
NM_005726.6(TSFM):c.774G>C (p.Gln258His)	rs1955739271	0.00001
NM_005726.6(TSFM):c.908_909del (p.Gln303fs)	rs1491203033	0.00001
NM_001172696.1(TSFM):c.[355G>C];[997C>T]
NM_005726.6(TSFM):c.115dup (p.Arg39fs)	rs2540942894
NM_005726.6(TSFM):c.139A>T (p.Lys47Ter)	rs2540943012
NM_005726.6(TSFM):c.177_187del (p.Tyr59_Asn63delinsTer)	rs2540943113
NM_005726.6(TSFM):c.17C>A (p.Ser6Ter)	rs372337739
NM_005726.6(TSFM):c.192C>A (p.Cys64Ter)	rs752852871
NM_005726.6(TSFM):c.1_2del (p.Met1fs)
NM_005726.6(TSFM):c.223del (p.Leu75fs)	rs2540943259
NM_005726.6(TSFM):c.231+1G>A	rs2540943285
NM_005726.6(TSFM):c.232-2A>G
NM_005726.6(TSFM):c.250A>T (p.Lys84Ter)	rs2540949104
NM_005726.6(TSFM):c.259C>T (p.Gln87Ter)	rs1595137877
NM_005726.6(TSFM):c.27_28del (p.Phe10fs)	rs2140412540
NM_005726.6(TSFM):c.2T>C (p.Met1Thr)	rs869025542
NM_005726.6(TSFM):c.382del (p.Val128fs)	rs2540950814
NM_005726.6(TSFM):c.399del (p.Lys133fs)	rs1955600413
NM_005726.6(TSFM):c.408_409del (p.Leu137fs)	rs1381664827
NM_005726.6(TSFM):c.484-1003_484-1000dup
NM_005726.6(TSFM):c.484-1G>A	rs753609161
NM_005726.6(TSFM):c.484G>A (p.Gly162Ser)	rs1180813038
NM_005726.6(TSFM):c.545_548del (p.Leu182fs)	rs1565823841
NM_005726.6(TSFM):c.559_560delinsA (p.Ala187fs)	rs2540959796
NM_005726.6(TSFM):c.57+1G>A	rs1403882425
NM_005726.6(TSFM):c.5C>A (p.Ser2Ter)	rs35957924
NM_005726.6(TSFM):c.600dup (p.Arg201fs)	rs772810012
NM_005726.6(TSFM):c.611G>A (p.Trp204Ter)	rs2540965002
NM_005726.6(TSFM):c.628_629insCATG (p.Gly210fs)	rs1412289052
NM_005726.6(TSFM):c.719G>C (p.Cys240Ser)	rs750799705
NM_005726.6(TSFM):c.74del (p.Arg25fs)	rs2540942755
NM_005726.6(TSFM):c.76C>T (p.Gln26Ter)	rs774870834
NM_005726.6(TSFM):c.796del (p.Leu266fs)
NM_005726.6(TSFM):c.796dup (p.Leu266fs)	rs1399931138
NM_005726.6(TSFM):c.797delinsGG (p.Leu266fs)	rs2540965587
NM_005726.6(TSFM):c.808_809del (p.Ser270fs)	rs2540965622
NM_005726.6(TSFM):c.857A>G (p.Gln286Arg)
NM_005726.6(TSFM):c.85C>T (p.Gln29Ter)	rs2140413092

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