ClinVar Miner

List of variants reported as likely benign for Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_003850.3(SUCLA2):c.236C>T (p.Ser79Leu) rs142289138 0.00062
NM_003850.3(SUCLA2):c.255A>G (p.Ala85=) rs149108442 0.00048
NM_003850.3(SUCLA2):c.372-6T>C rs139004670 0.00046
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 0.00019
NM_003850.3(SUCLA2):c.942C>T (p.Leu314=) rs368442407 0.00016
NM_003850.3(SUCLA2):c.965-20A>C rs376116619 0.00016
NM_003850.3(SUCLA2):c.21C>T (p.Tyr7=) rs374479008 0.00014
NM_003850.3(SUCLA2):c.1248T>C (p.Ala416=) rs147829455 0.00013
NM_003850.3(SUCLA2):c.9C>T (p.Ala3=) rs138270687 0.00013
NM_003850.3(SUCLA2):c.1365G>A (p.Val455=) rs149877405 0.00011
NM_003850.3(SUCLA2):c.1108-9T>C rs368590927 0.00007
NM_003850.3(SUCLA2):c.1318-19C>T rs369690029 0.00006
NM_003850.3(SUCLA2):c.1108-4A>G rs374695363 0.00005
NM_003850.3(SUCLA2):c.1229-16C>T rs757724696 0.00005
NM_003850.3(SUCLA2):c.272-10T>C rs374732113 0.00005
NM_003850.3(SUCLA2):c.663+8G>T rs377144976 0.00005
NM_003850.3(SUCLA2):c.732C>T (p.Tyr244=) rs758228265 0.00005
NM_003850.3(SUCLA2):c.78G>A (p.Arg26=) rs1174121047 0.00005
NM_003850.3(SUCLA2):c.852C>T (p.Arg284=) rs150191407 0.00005
NM_003850.3(SUCLA2):c.1320T>C (p.Val440=) rs140383237 0.00004
NM_003850.3(SUCLA2):c.36C>G (p.Ala12=) rs771793708 0.00004
NM_003850.3(SUCLA2):c.1318-10T>A rs1011520952 0.00003
NM_003850.3(SUCLA2):c.750C>T (p.Tyr250=) rs765245532 0.00003
NM_003850.3(SUCLA2):c.90+19C>T rs370867973 0.00003
NM_003850.3(SUCLA2):c.937G>A (p.Gly313Ser) rs576801606 0.00003
NM_003850.3(SUCLA2):c.1239C>T (p.Val413=) rs765465308 0.00002
NM_003850.3(SUCLA2):c.1335A>G (p.Glu445=) rs778280630 0.00002
NM_003850.3(SUCLA2):c.900G>A (p.Arg300=) rs1344893738 0.00002
NM_003850.3(SUCLA2):c.1089T>G (p.Leu363=) rs1302894616 0.00001
NM_003850.3(SUCLA2):c.1108-19C>T rs1187637724 0.00001
NM_003850.3(SUCLA2):c.1143C>T (p.Ile381=) rs1459850048 0.00001
NM_003850.3(SUCLA2):c.1228+15T>C rs763228733 0.00001
NM_003850.3(SUCLA2):c.1229-15A>G rs2541668108 0.00001
NM_003850.3(SUCLA2):c.1251G>A (p.Lys417=) rs761912388 0.00001
NM_003850.3(SUCLA2):c.1318-15G>A rs369590382 0.00001
NM_003850.3(SUCLA2):c.190T>C (p.Leu64=) rs759835529 0.00001
NM_003850.3(SUCLA2):c.252T>C (p.Tyr84=) rs1593505647 0.00001
NM_003850.3(SUCLA2):c.272-17A>C rs745651803 0.00001
NM_003850.3(SUCLA2):c.272-18G>A rs1950128969 0.00001
NM_003850.3(SUCLA2):c.285C>T (p.Val95=) rs1329792379 0.00001
NM_003850.3(SUCLA2):c.345C>T (p.Leu115=) rs761921467 0.00001
NM_003850.3(SUCLA2):c.435G>A (p.Thr145=) rs778919386 0.00001
NM_003850.3(SUCLA2):c.534+20A>G rs2137742870 0.00001
NM_003850.3(SUCLA2):c.535-13C>T rs372847680 0.00001
NM_003850.3(SUCLA2):c.664-7A>T rs1277870480 0.00001
NM_003850.3(SUCLA2):c.699G>T (p.Val233=) rs780245301 0.00001
NM_003850.3(SUCLA2):c.705A>T (p.Ser235=) rs750614246 0.00001
NM_003850.3(SUCLA2):c.804A>G (p.Val268=) rs761518468 0.00001
NM_003850.3(SUCLA2):c.819A>C (p.Ala273=) rs1593479902 0.00001
NM_003850.3(SUCLA2):c.90+14del rs1278242539 0.00001
NM_003850.3(SUCLA2):c.91-13C>G rs370895261 0.00001
NM_003850.3(SUCLA2):c.930C>T (p.Asn310=) rs777283889 0.00001
NM_003850.3(SUCLA2):c.964+17T>C rs779776982 0.00001
NM_003850.3(SUCLA2):c.965-6A>G rs759994740 0.00001
NM_003850.3(SUCLA2):c.1011T>A (p.Leu337=) rs1432899624
NM_003850.3(SUCLA2):c.1107+10G>C rs2137694016
NM_003850.3(SUCLA2):c.1107+11G>C rs2541673122
NM_003850.3(SUCLA2):c.1107+12G>C
NM_003850.3(SUCLA2):c.1107+19A>G rs2541673114
NM_003850.3(SUCLA2):c.1107+7G>C rs2541673128
NM_003850.3(SUCLA2):c.1108-16A>G
NM_003850.3(SUCLA2):c.1108-4A>T rs374695363
NM_003850.3(SUCLA2):c.1188A>G (p.Lys396=) rs2541668703
NM_003850.3(SUCLA2):c.1209T>A (p.Pro403=) rs2541668691
NM_003850.3(SUCLA2):c.1228+8T>C rs2541668653
NM_003850.3(SUCLA2):c.1229-10del
NM_003850.3(SUCLA2):c.1229-11A>C
NM_003850.3(SUCLA2):c.1229-9C>A rs764224889
NM_003850.3(SUCLA2):c.1248T>A (p.Ala416=) rs147829455
NM_003850.3(SUCLA2):c.1263G>A (p.Ala421=) rs765178650
NM_003850.3(SUCLA2):c.1317+18A>C
NM_003850.3(SUCLA2):c.1317+18A>T
NM_003850.3(SUCLA2):c.1317+9G>T rs1949755921
NM_003850.3(SUCLA2):c.1318-11T>G rs2541662794
NM_003850.3(SUCLA2):c.1318-12C>G rs1260295010
NM_003850.3(SUCLA2):c.1318-15G>C rs369590382
NM_003850.3(SUCLA2):c.1318-16C>T
NM_003850.3(SUCLA2):c.1318-19C>A
NM_003850.3(SUCLA2):c.1332T>C (p.Ser444=) rs774895145
NM_003850.3(SUCLA2):c.1353G>A (p.Lys451=) rs754141542
NM_003850.3(SUCLA2):c.165A>G (p.Leu55=) rs1950196548
NM_003850.3(SUCLA2):c.18C>T (p.Phe6=) rs1324839732
NM_003850.3(SUCLA2):c.268T>C (p.Leu90=) rs149929505
NM_003850.3(SUCLA2):c.271+13G>A rs2541715382
NM_003850.3(SUCLA2):c.271+16A>C rs2541715379
NM_003850.3(SUCLA2):c.272-20T>A rs2541707983
NM_003850.3(SUCLA2):c.272-8T>C rs777701275
NM_003850.3(SUCLA2):c.27G>A (p.Arg9=) rs2541720983
NM_003850.3(SUCLA2):c.285C>A (p.Val95=) rs1329792379
NM_003850.3(SUCLA2):c.315T>C (p.Gly105=) rs1950128412
NM_003850.3(SUCLA2):c.321A>G (p.Gly107=) rs1397436892
NM_003850.3(SUCLA2):c.342C>A (p.Gly114=)
NM_003850.3(SUCLA2):c.372-7_372-6del rs1324281132
NM_003850.3(SUCLA2):c.372-9T>C
NM_003850.3(SUCLA2):c.39G>A (p.Val13=) rs894388833
NM_003850.3(SUCLA2):c.418T>C (p.Leu140=) rs2541707528
NM_003850.3(SUCLA2):c.459T>C (p.Asn153=)
NM_003850.3(SUCLA2):c.466T>C (p.Leu156=) rs2541707463
NM_003850.3(SUCLA2):c.534+7A>G rs1950123508
NM_003850.3(SUCLA2):c.535-11T>C
NM_003850.3(SUCLA2):c.54C>T (p.Asn18=)
NM_003850.3(SUCLA2):c.552A>T (p.Gly184=) rs576129571
NM_003850.3(SUCLA2):c.567T>A (p.Gly189=)
NM_003850.3(SUCLA2):c.570C>G (p.Val190=) rs2541693468
NM_003850.3(SUCLA2):c.600T>G (p.Pro200=)
NM_003850.3(SUCLA2):c.627T>C (p.Asp209=) rs2541693364
NM_003850.3(SUCLA2):c.636A>G (p.Glu212=)
NM_003850.3(SUCLA2):c.651A>G (p.Glu217=) rs1949983274
NM_003850.3(SUCLA2):c.663+13C>T rs758939910
NM_003850.3(SUCLA2):c.663+14C>T rs1949983009
NM_003850.3(SUCLA2):c.663+16G>A rs2541693269
NM_003850.3(SUCLA2):c.664-11_664-10del rs1491338232
NM_003850.3(SUCLA2):c.675G>A (p.Lys225=) rs1566086305
NM_003850.3(SUCLA2):c.69G>A (p.Thr23=) rs1324777274
NM_003850.3(SUCLA2):c.768A>G (p.Glu256=) rs2541687725
NM_003850.3(SUCLA2):c.802+10C>T rs2541687662
NM_003850.3(SUCLA2):c.802+15T>C
NM_003850.3(SUCLA2):c.802+18G>A rs2541687645
NM_003850.3(SUCLA2):c.802+8A>G rs541958666
NM_003850.3(SUCLA2):c.802+9T>C
NM_003850.3(SUCLA2):c.803-14T>A rs749981514
NM_003850.3(SUCLA2):c.81T>G (p.Ala27=) rs1411239127
NM_003850.3(SUCLA2):c.846C>T (p.Ala282=)
NM_003850.3(SUCLA2):c.873A>G (p.Leu291=)
NM_003850.3(SUCLA2):c.894T>C (p.Asp298=) rs113049148
NM_003850.3(SUCLA2):c.90+17C>T rs773993642
NM_003850.3(SUCLA2):c.90+7C>A rs771607199
NM_003850.3(SUCLA2):c.933C>T (p.Tyr311=)
NM_003850.3(SUCLA2):c.960C>T (p.Cys320=) rs1949802335
NM_003850.3(SUCLA2):c.965-13T>C rs2541673367
NM_003850.3(SUCLA2):c.965-17C>G rs990951126
NM_003850.3(SUCLA2):c.965-20_965-16del rs1313070935
NM_003850.3(SUCLA2):c.965-8C>T rs1225032007

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