ClinVar Miner

List of variants reported as uncertain significance for Mitochondrial DNA depletion syndrome 9 by Illumina Laboratory Services, Illumina

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_003849.3(SUCLG1):c.-107A>G rs140936198 0.00764
NM_003849.4(SUCLG1):c.900C>T (p.Ala300=) rs113840224 0.00155
NM_003849.3(SUCLG1):c.-186G>A rs143151382 0.00122
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_003849.4(SUCLG1):c.202-4T>C rs141973418 0.00063
NM_003849.4(SUCLG1):c.384C>T (p.Ala128=) rs139731592 0.00045
NM_003849.4(SUCLG1):c.345T>C (p.Ala115=) rs374594774 0.00027
NM_003849.4(SUCLG1):c.110G>C (p.Gly37Ala) rs369610897 0.00025
NM_003849.4(SUCLG1):c.341C>T (p.Thr114Met) rs201224138 0.00025
NM_003849.4(SUCLG1):c.87C>T (p.Arg29=) rs371938859 0.00021
NM_003849.4(SUCLG1):c.101C>T (p.Pro34Leu) rs149809280 0.00019
NM_003849.4(SUCLG1):c.395C>G (p.Ala132Gly) rs376171433 0.00015
NM_003849.4(SUCLG1):c.*38C>T rs369617521 0.00014
NM_003849.4(SUCLG1):c.481C>T (p.Arg161Cys) rs141331864 0.00013
NM_003849.4(SUCLG1):c.959G>A (p.Ser320Asn) rs146834097 0.00010
NM_003849.4(SUCLG1):c.590-6G>A rs200107730 0.00008
NM_003849.4(SUCLG1):c.319-8T>C rs370790297 0.00007
NM_003849.4(SUCLG1):c.*218A>G rs570310549 0.00006
NM_003849.4(SUCLG1):c.825+1G>A rs750388794 0.00002
NM_003849.4(SUCLG1):c.1028G>C (p.Arg343Thr) rs748995693 0.00001
NM_003849.4(SUCLG1):c.201+8T>A rs764185628 0.00001
NM_003849.4(SUCLG1):c.202-3C>T rs769207281 0.00001
NM_003849.3(SUCLG1):c.-150T>A rs886056354
NM_003849.3(SUCLG1):c.-39C>A rs144946502
NM_003849.3(SUCLG1):c.-39C>G rs144946502
NM_003849.3(SUCLG1):c.-71G>T rs886056353
NM_003849.4(SUCLG1):c.*126G>A rs1672489386
NM_003849.4(SUCLG1):c.*13del rs527774382
NM_003849.4(SUCLG1):c.152_153del (p.Tyr51fs) rs1308442327
NM_003849.4(SUCLG1):c.98-10_98-8del rs886056350
NM_003849.4(SUCLG1):c.98-15_98-14insAACC rs886056352

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