ClinVar Miner

List of variants studied for Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria by Illumina Laboratory Services, Illumina

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_003850.3(SUCLA2):c.*217T>C rs4941618 0.93675
NM_003850.3(SUCLA2):c.371+9C>T rs6561424 0.73019
NM_003850.3(SUCLA2):c.*328A>G rs13243 0.08057
NM_003850.3(SUCLA2):c.110T>G (p.Leu37Trp) rs62636645 0.02383
NM_003850.3(SUCLA2):c.510A>G (p.Ala170=) rs35568795 0.01320
NM_003850.3(SUCLA2):c.1099G>A (p.Asp367Asn) rs117412559 0.00851
NM_003850.3(SUCLA2):c.*581T>G rs74615692 0.00652
NM_003850.3(SUCLA2):c.256A>G (p.Ile86Val) rs61756204 0.00451
NM_003850.3(SUCLA2):c.789T>C (p.Asp263=) rs57270175 0.00441
NM_003850.3(SUCLA2):c.37G>A (p.Val13Met) rs35201084 0.00371
NM_003850.3(SUCLA2):c.811A>G (p.Met271Val) rs142020748 0.00221
NM_003850.3(SUCLA2):c.617A>G (p.Glu206Gly) rs141647723 0.00074
NM_003850.3(SUCLA2):c.236C>T (p.Ser79Leu) rs142289138 0.00062
NM_003850.2(SUCLA2):c.-34G>T rs373530187 0.00059
NM_003850.3(SUCLA2):c.*205T>C rs149321505 0.00058
NM_003850.3(SUCLA2):c.1350G>A (p.Ala450=) rs144969057 0.00036
NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly) rs200124902 0.00024
NM_003850.3(SUCLA2):c.272-13G>C rs367890526 0.00017
NM_003850.3(SUCLA2):c.*380C>T rs879540740 0.00014
NM_003850.3(SUCLA2):c.21C>T (p.Tyr7=) rs374479008 0.00014
NM_003850.3(SUCLA2):c.*252C>T rs772920028 0.00012
NM_003850.2(SUCLA2):c.-12T>G rs753085253 0.00010
NM_003850.3(SUCLA2):c.*431G>C rs886050257 0.00009
NM_003850.3(SUCLA2):c.*220C>T rs184125665 0.00006
NM_003850.3(SUCLA2):c.*184G>A rs1461746252 0.00004
NM_003850.3(SUCLA2):c.1074A>C (p.Thr358=) rs746516356 0.00004
NM_003850.3(SUCLA2):c.1320T>C (p.Val440=) rs140383237 0.00004
NM_003850.3(SUCLA2):c.232A>C (p.Lys78Gln) rs765735446 0.00004
NM_003850.3(SUCLA2):c.517A>G (p.Met173Val) rs886050264 0.00002
NM_003850.2(SUCLA2):c.-49C>G rs779622050 0.00001
NM_003850.3(SUCLA2):c.*319A>T rs534469197 0.00001
NM_003850.3(SUCLA2):c.1043T>G (p.Val348Gly) rs1282208356 0.00001
NM_003850.3(SUCLA2):c.1318-15G>A rs369590382 0.00001
NM_003850.3(SUCLA2):c.240A>C (p.Pro80=) rs757232771 0.00001
NM_003850.3(SUCLA2):c.274T>G (p.Ser92Ala) rs764915250 0.00001
NM_003850.3(SUCLA2):c.373C>T (p.Pro125Ser) rs770036022 0.00001
NM_003850.3(SUCLA2):c.535-13C>T rs372847680 0.00001
NM_003850.2(SUCLA2):c.-48G>A rs774191261
NM_003850.3(SUCLA2):c.*331C>A rs776688171
NM_003850.3(SUCLA2):c.*349C>G rs886050258
NM_003850.3(SUCLA2):c.*391A>G rs1949697603
NM_003850.3(SUCLA2):c.*434T>G rs1949697193
NM_003850.3(SUCLA2):c.*435A>G rs1949697178
NM_003850.3(SUCLA2):c.*468A>G rs886050256
NM_003850.3(SUCLA2):c.*661C>A rs10397
NM_003850.3(SUCLA2):c.*661C>G rs10397
NM_003850.3(SUCLA2):c.272-2A>G rs565456094
NM_003850.3(SUCLA2):c.36C>T (p.Ala12=) rs771793708
NM_003850.3(SUCLA2):c.595T>A (p.Ser199Thr) rs7320366
NM_003850.3(SUCLA2):c.664-12T>C rs1251657319
NM_003850.3(SUCLA2):c.68C>G (p.Thr23Arg) rs538760468
NM_003850.3(SUCLA2):c.802+4A>G rs886050263
NM_003850.3(SUCLA2):c.803-4A>G rs1949803798
NM_003850.3(SUCLA2):c.817G>A (p.Ala273Thr) rs886050262

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