ClinVar Miner

List of variants in gene combination LOC130009747, SUCLA2 reported as likely benign for Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly) rs200124902 0.00024
NM_003850.3(SUCLA2):c.78G>A (p.Arg26=) rs1174121047 0.00006
NM_003850.3(SUCLA2):c.36C>G (p.Ala12=) rs771793708 0.00004
NM_003850.3(SUCLA2):c.90+19C>T rs370867973 0.00003
NM_003850.3(SUCLA2):c.39G>A (p.Val13=) rs894388833
NM_003850.3(SUCLA2):c.69G>A (p.Thr23=)
NM_003850.3(SUCLA2):c.81T>G (p.Ala27=) rs1411239127
NM_003850.3(SUCLA2):c.90+14del
NM_003850.3(SUCLA2):c.90+17C>T
NM_003850.3(SUCLA2):c.90+7C>A

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