List of variants in gene SUCLG1 reported as uncertain significance for Mitochondrial DNA depletion syndrome

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_003849.4(SUCLG1):c.900C>T (p.Ala300=)	rs113840224	0.00155
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.345T>C (p.Ala115=)	rs374594774	0.00027
NM_003849.4(SUCLG1):c.110G>C (p.Gly37Ala)	rs369610897	0.00025
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.959G>A (p.Ser320Asn)	rs146834097	0.00010
NM_003849.4(SUCLG1):c.590-6G>A	rs200107730	0.00008
NM_003849.4(SUCLG1):c.*218A>G	rs570310549	0.00006
NM_003849.4(SUCLG1):c.1028G>C (p.Arg343Thr)	rs748995693	0.00001
NM_003849.4(SUCLG1):c.201+8T>A	rs764185628	0.00001
NM_003849.3(SUCLG1):c.-39C>A	rs144946502
NM_003849.3(SUCLG1):c.-39C>G	rs144946502
NM_003849.4(SUCLG1):c.*13del	rs527774382
NM_003849.4(SUCLG1):c.242A>G (p.Lys81Arg)	rs564792232
NM_003849.4(SUCLG1):c.98-10_98-8del	rs886056350
NM_003849.4(SUCLG1):c.98-15_98-14insAACC	rs886056352

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