ClinVar Miner

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

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Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_003850.3(SUCLA2):c.510A>G (p.Ala170=) rs35568795 0.01320
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 0.00045
NM_003850.3(SUCLA2):c.1350G>A (p.Ala450=) rs144969057 0.00036
NM_003850.3(SUCLA2):c.272-13G>C rs367890526 0.00017
NM_003850.3(SUCLA2):c.942C>T (p.Leu314=) rs368442407 0.00017
NM_003850.3(SUCLA2):c.965-20A>C rs376116619 0.00017
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.705A>T (p.Ser235=) rs750614246 0.00008
NM_003850.3(SUCLA2):c.1318-19C>T rs369690029 0.00006
NM_003850.3(SUCLA2):c.663+8G>T rs377144976 0.00006
NM_003850.3(SUCLA2):c.272-10T>C rs374732113 0.00005
NM_003850.3(SUCLA2):c.732C>T (p.Tyr244=) rs758228265 0.00005
NM_003850.3(SUCLA2):c.1320T>C (p.Val440=) rs140383237 0.00004
NM_003850.3(SUCLA2):c.750C>T (p.Tyr250=) rs765245532 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.435G>A (p.Thr145=) rs778919386 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.1318-15G>A rs369590382 0.00001
NM_003850.3(SUCLA2):c.535-13C>T rs372847680 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.930C>T (p.Asn310=) rs777283889 0.00001
NM_003850.3(SUCLA2):c.964+17T>C rs779776982 0.00001
NM_003850.3(SUCLA2):c.1107+10G>C rs2137694016
NM_003850.3(SUCLA2):c.1107+11G>C
NM_003850.3(SUCLA2):c.1107+19A>G
NM_003850.3(SUCLA2):c.1107+7G>C
NM_003850.3(SUCLA2):c.1108-4A>G
NM_003850.3(SUCLA2):c.1108-4A>T rs374695363
NM_003850.3(SUCLA2):c.1108-9T>C
NM_003850.3(SUCLA2):c.1143C>T (p.Ile381=)
NM_003850.3(SUCLA2):c.1188A>G (p.Lys396=)
NM_003850.3(SUCLA2):c.1209T>A (p.Pro403=)
NM_003850.3(SUCLA2):c.1228+15T>C
NM_003850.3(SUCLA2):c.1228+8T>C
NM_003850.3(SUCLA2):c.1229-15A>G
NM_003850.3(SUCLA2):c.1229-16C>T
NM_003850.3(SUCLA2):c.1229-9C>A
NM_003850.3(SUCLA2):c.1248T>A (p.Ala416=)
NM_003850.3(SUCLA2):c.1251G>A (p.Lys417=)
NM_003850.3(SUCLA2):c.1263G>A (p.Ala421=) rs765178650
NM_003850.3(SUCLA2):c.1317+9G>T
NM_003850.3(SUCLA2):c.1318-10T>A
NM_003850.3(SUCLA2):c.1318-11T>G
NM_003850.3(SUCLA2):c.1318-12C>G
NM_003850.3(SUCLA2):c.1318-15G>C
NM_003850.3(SUCLA2):c.1332T>C (p.Ser444=)
NM_003850.3(SUCLA2):c.1353G>A (p.Lys451=) rs754141542
NM_003850.3(SUCLA2):c.1365G>A (p.Val455=)
NM_003850.3(SUCLA2):c.165A>G (p.Leu55=)
NM_003850.3(SUCLA2):c.18C>T (p.Phe6=)
NM_003850.3(SUCLA2):c.190T>C (p.Leu64=)
NM_003850.3(SUCLA2):c.268T>C (p.Leu90=) rs149929505
NM_003850.3(SUCLA2):c.271+13G>A
NM_003850.3(SUCLA2):c.271+16A>C
NM_003850.3(SUCLA2):c.272-17A>C
NM_003850.3(SUCLA2):c.272-18G>A
NM_003850.3(SUCLA2):c.272-20T>A
NM_003850.3(SUCLA2):c.272-8T>C
NM_003850.3(SUCLA2):c.27G>A (p.Arg9=)
NM_003850.3(SUCLA2):c.285C>A (p.Val95=)
NM_003850.3(SUCLA2):c.285C>T (p.Val95=)
NM_003850.3(SUCLA2):c.315T>C (p.Gly105=)
NM_003850.3(SUCLA2):c.321A>G (p.Gly107=) rs1397436892
NM_003850.3(SUCLA2):c.345C>T (p.Leu115=)
NM_003850.3(SUCLA2):c.372-7_372-6del
NM_003850.3(SUCLA2):c.418T>C (p.Leu140=)
NM_003850.3(SUCLA2):c.466T>C (p.Leu156=)
NM_003850.3(SUCLA2):c.534+7A>G rs1950123508
NM_003850.3(SUCLA2):c.552A>T (p.Gly184=) rs576129571
NM_003850.3(SUCLA2):c.570C>G (p.Val190=)
NM_003850.3(SUCLA2):c.627T>C (p.Asp209=)
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
NM_003850.3(SUCLA2):c.663+16G>A
NM_003850.3(SUCLA2):c.664-11_664-10del rs1491338232
NM_003850.3(SUCLA2):c.664-7A>T
NM_003850.3(SUCLA2):c.675G>A (p.Lys225=)
NM_003850.3(SUCLA2):c.699G>T (p.Val233=)
NM_003850.3(SUCLA2):c.768A>G (p.Glu256=)
NM_003850.3(SUCLA2):c.802+10C>T
NM_003850.3(SUCLA2):c.802+18G>A
NM_003850.3(SUCLA2):c.802+8A>G
NM_003850.3(SUCLA2):c.803-14T>A
NM_003850.3(SUCLA2):c.852C>T (p.Arg284=)
NM_003850.3(SUCLA2):c.894T>C (p.Asp298=) rs113049148
NM_003850.3(SUCLA2):c.900G>A (p.Arg300=)
NM_003850.3(SUCLA2):c.91-13C>G
NM_003850.3(SUCLA2):c.937G>A (p.Gly313Ser) rs576801606
NM_003850.3(SUCLA2):c.960C>T (p.Cys320=)
NM_003850.3(SUCLA2):c.965-13T>C
NM_003850.3(SUCLA2):c.965-17C>G rs990951126
NM_003850.3(SUCLA2):c.965-20_965-16del
NM_003850.3(SUCLA2):c.965-6A>G
NM_003850.3(SUCLA2):c.965-8C>T rs1225032007

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