ClinVar Miner

List of variants in gene SUCLG1 reported as pathogenic for mitochondrial DNA depletion syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_003849.4(SUCLG1):c.548T>C (p.Ile183Thr) rs140626260 0.00002
NM_003849.4(SUCLG1):c.254G>C (p.Gly85Ala) rs267607097 0.00001
NM_003849.4(SUCLG1):c.460C>T (p.Arg154Ter) rs369153479 0.00001
NM_003849.4(SUCLG1):c.814C>T (p.Gln272Ter) rs1246050542 0.00001
NC_000002.11:g.(?_84650850)_(84686413_?)del
NM_003849.4(SUCLG1):c.152_153del (p.Tyr51fs) rs1308442327
NM_003849.4(SUCLG1):c.169_170del (p.Lys57fs) rs1672907018
NM_003849.4(SUCLG1):c.201+1G>T rs1573374828
NM_003849.4(SUCLG1):c.40A>T (p.Met14Leu) rs796052053
NM_003849.4(SUCLG1):c.445C>T (p.Gln149Ter)
NM_003849.4(SUCLG1):c.448C>T (p.Gln150Ter) rs267607098
NM_003849.4(SUCLG1):c.457_458delinsTA (p.Val153Ter) rs1573369929
NM_003849.4(SUCLG1):c.458T>A (p.Val153Glu) rs1573369925
NM_003849.4(SUCLG1):c.507del (p.Asn171fs) rs797046017
NM_003849.4(SUCLG1):c.509C>G (p.Pro170Arg) rs267607099
NM_003849.4(SUCLG1):c.626C>A (p.Ala209Glu)
NM_003849.4(SUCLG1):c.643C>T (p.Gln215Ter) rs2104245141
NM_003849.4(SUCLG1):c.724del (p.Ile242fs) rs2104243406
NM_003849.4(SUCLG1):c.835del (p.Ser279fs)
NM_003849.4(SUCLG1):c.97+3G>C rs786205871
NM_003849.4(SUCLG1):c.[460C>T;987dup]

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