ClinVar Miner

List of variants studied for mitochondrial DNA depletion syndrome by Revvity Omics, Revvity

Included ClinVar conditions (57):
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ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_003850.3(SUCLA2):c.617A>G (p.Glu206Gly) rs141647723 0.00074
NM_001278716.2(FBXL4):c.1388T>C (p.Met463Thr) rs146638016 0.00047
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_001278716.2(FBXL4):c.1103+13C>T rs182076681 0.00016
NM_001278716.2(FBXL4):c.527G>C (p.Trp176Ser) rs201858974 0.00016
NM_003850.3(SUCLA2):c.985A>G (p.Met329Val) rs200167311 0.00015
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr) rs773850151 0.00014
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys) rs778692687 0.00005
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala) rs121913036 0.00005
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter) rs201889294 0.00004
NM_003850.3(SUCLA2):c.943G>A (p.Asp315Asn) rs772228438 0.00002
NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter) rs1554222130 0.00001
NM_001278716.2(FBXL4):c.776T>C (p.Met259Thr) rs376909719 0.00001
NM_001953.5(TYMP):c.647C>T (p.Ala216Val) rs1064792855 0.00001
NM_001278716.2(FBXL4):c.1155C>G (p.Ser385Arg)
NM_001278716.2(FBXL4):c.1317+137T>C
NM_001278716.2(FBXL4):c.1390-2172C>T
NM_001278716.2(FBXL4):c.1465T>G (p.Cys489Gly)
NM_001278716.2(FBXL4):c.1721C>T (p.Pro574Leu) rs779731686
NM_001953.5(TYMP):c.11del (p.Ala3_Leu4insTer) rs764792655
NM_001953.5(TYMP):c.228G>A (p.Met76Ile) rs1064792859
NM_001953.5(TYMP):c.809T>C (p.Leu270Pro) rs1178421926
NM_001953.5(TYMP):c.928+1G>A rs1064792876
NM_003201.3(TFAM):c.313G>A (p.Ala105Thr)
NM_003849.4(SUCLG1):c.40A>G (p.Met14Val) rs796052053
NM_003849.4(SUCLG1):c.548T>G (p.Ile183Ser)
NM_003849.4(SUCLG1):c.790G>T (p.Glu264Ter)
NM_003849.4(SUCLG1):c.844G>A (p.Val282Ile)
NM_003850.3(SUCLA2):c.1141A>G (p.Ile381Val)
NM_003850.3(SUCLA2):c.442A>G (p.Lys148Glu)
NM_003850.3(SUCLA2):c.455G>A (p.Cys152Tyr)
NM_003850.3(SUCLA2):c.815A>T (p.Asp272Val) rs1555256440
NM_052865.4(MGME1):c.203C>G (p.Thr68Ser)
NM_052865.4(MGME1):c.456G>A (p.Trp152Ter) rs587776943

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