ClinVar Miner

List of variants reported as likely benign for Mitochondrial DNA depletion syndrome 9 by Invitae

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ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_003849.4(SUCLG1):c.384C>T (p.Ala128=) rs139731592 0.00045
NM_003849.4(SUCLG1):c.721G>A (p.Glu241Lys) rs145106503 0.00045
NM_003849.4(SUCLG1):c.97+17C>T rs113923257 0.00035
NM_003849.4(SUCLG1):c.98-18T>G rs747785763 0.00031
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.87C>T (p.Arg29=) rs371938859 0.00021
NM_003849.4(SUCLG1):c.395C>G (p.Ala132Gly) rs376171433 0.00015
NM_003849.4(SUCLG1):c.63C>A (p.Leu21=) rs982734922 0.00012
NM_003849.4(SUCLG1):c.98-19T>G rs1203068688 0.00012
NM_003849.4(SUCLG1):c.102G>A (p.Pro34=) rs767975978 0.00011
NM_003849.4(SUCLG1):c.590-6G>A rs200107730 0.00008
NM_003849.4(SUCLG1):c.319-8T>C rs370790297 0.00007
NM_003849.4(SUCLG1):c.98-8C>A rs754389067 0.00007
NM_003849.4(SUCLG1):c.202-12T>A rs762549452 0.00006
NM_003849.4(SUCLG1):c.319-13G>A rs374236377 0.00006
NM_003849.4(SUCLG1):c.319-17C>T rs368112738 0.00005
NM_003849.4(SUCLG1):c.826-8del rs1176620455 0.00004
NM_003849.4(SUCLG1):c.1015-18T>A rs961127893 0.00002
NM_003849.4(SUCLG1):c.652T>C (p.Leu218=) rs776610464 0.00002
NM_003849.4(SUCLG1):c.69C>T (p.Ala23=) rs866015308 0.00002
NM_003849.4(SUCLG1):c.888A>G (p.Arg296=) rs555884621 0.00002
NM_003849.4(SUCLG1):c.153T>C (p.Tyr51=) rs1404476699 0.00001
NM_003849.4(SUCLG1):c.201+8T>A rs764185628 0.00001
NM_003849.4(SUCLG1):c.234T>C (p.Tyr78=) rs141150411 0.00001
NM_003849.4(SUCLG1):c.519T>C (p.Pro173=) rs776695932 0.00001
NM_003849.4(SUCLG1):c.531+7G>A rs1361184240 0.00001
NM_003849.4(SUCLG1):c.735C>T (p.Asn245=) rs377483465 0.00001
NM_003849.4(SUCLG1):c.825+14T>C rs781113881 0.00001
NM_003849.4(SUCLG1):c.1005G>A (p.Thr335=)
NM_003849.4(SUCLG1):c.1015-14T>G
NM_003849.4(SUCLG1):c.1015-23CT[6]
NM_003849.4(SUCLG1):c.1015-6C>T
NM_003849.4(SUCLG1):c.119A>G (p.His40Arg)
NM_003849.4(SUCLG1):c.12C>A (p.Thr4=)
NM_003849.4(SUCLG1):c.12C>T (p.Thr4=)
NM_003849.4(SUCLG1):c.132A>G (p.Thr44=)
NM_003849.4(SUCLG1):c.159T>C (p.Asp53=) rs138470502
NM_003849.4(SUCLG1):c.18C>T (p.Ala6=) rs1348896779
NM_003849.4(SUCLG1):c.202-14C>T
NM_003849.4(SUCLG1):c.202-8C>T rs1342114001
NM_003849.4(SUCLG1):c.240C>G (p.Thr80=)
NM_003849.4(SUCLG1):c.242A>G (p.Lys81Arg) rs564792232
NM_003849.4(SUCLG1):c.246C>T (p.Leu82=)
NM_003849.4(SUCLG1):c.24C>A (p.Ala8=) rs1000084551
NM_003849.4(SUCLG1):c.24C>T (p.Ala8=)
NM_003849.4(SUCLG1):c.264A>T (p.Pro88=)
NM_003849.4(SUCLG1):c.285T>C (p.His95=)
NM_003849.4(SUCLG1):c.318+17G>C rs1468404675
NM_003849.4(SUCLG1):c.318+19G>A
NM_003849.4(SUCLG1):c.318+9T>A rs2104256496
NM_003849.4(SUCLG1):c.319-16G>A
NM_003849.4(SUCLG1):c.319-16G>T
NM_003849.4(SUCLG1):c.319-20C>G
NM_003849.4(SUCLG1):c.319-4T>G
NM_003849.4(SUCLG1):c.342G>A (p.Thr114=)
NM_003849.4(SUCLG1):c.348T>C (p.Ser116=)
NM_003849.4(SUCLG1):c.366G>A (p.Pro122=)
NM_003849.4(SUCLG1):c.435A>G (p.Glu145=)
NM_003849.4(SUCLG1):c.444C>T (p.Pro148=)
NM_003849.4(SUCLG1):c.45C>T (p.Val15=)
NM_003849.4(SUCLG1):c.483C>T (p.Arg161=)
NM_003849.4(SUCLG1):c.501A>T (p.Leu167=)
NM_003849.4(SUCLG1):c.522A>C (p.Gly174=)
NM_003849.4(SUCLG1):c.531+15A>G
NM_003849.4(SUCLG1):c.532-11A>G
NM_003849.4(SUCLG1):c.532-12_532-10del rs760236068
NM_003849.4(SUCLG1):c.532-15T>G
NM_003849.4(SUCLG1):c.532-4T>A
NM_003849.4(SUCLG1):c.589+12_589+15del
NM_003849.4(SUCLG1):c.589+14T>C
NM_003849.4(SUCLG1):c.589+17del
NM_003849.4(SUCLG1):c.590-11C>T
NM_003849.4(SUCLG1):c.590-16A>C
NM_003849.4(SUCLG1):c.590-18G>T
NM_003849.4(SUCLG1):c.633C>T (p.His211=)
NM_003849.4(SUCLG1):c.63C>G (p.Leu21=)
NM_003849.4(SUCLG1):c.666G>A (p.Leu222=)
NM_003849.4(SUCLG1):c.669C>T (p.Cys223=)
NM_003849.4(SUCLG1):c.673+19A>C
NM_003849.4(SUCLG1):c.673+19A>G
NM_003849.4(SUCLG1):c.674-18A>G rs1672616437
NM_003849.4(SUCLG1):c.681A>C (p.Gly227=)
NM_003849.4(SUCLG1):c.720C>T (p.Leu240=)
NM_003849.4(SUCLG1):c.760T>C (p.Leu254=)
NM_003849.4(SUCLG1):c.801A>G (p.Ala267=)
NM_003849.4(SUCLG1):c.826-13_826-10del rs1064793276
NM_003849.4(SUCLG1):c.826-15T>C
NM_003849.4(SUCLG1):c.837C>G (p.Ser279=)
NM_003849.4(SUCLG1):c.861T>G (p.Ala287=)
NM_003849.4(SUCLG1):c.90C>T (p.Ser30=)
NM_003849.4(SUCLG1):c.915T>C (p.Ala305=) rs1672521714
NM_003849.4(SUCLG1):c.936A>G (p.Lys312=) rs2104236652
NM_003849.4(SUCLG1):c.969T>C (p.Val323=) rs2104236589
NM_003849.4(SUCLG1):c.97+12C>A
NM_003849.4(SUCLG1):c.98-17_98-11del rs56733272
NM_003849.4(SUCLG1):c.98-24_98-11del rs56733272
NM_003849.4(SUCLG1):c.98-25_98-11del
NM_003849.4(SUCLG1):c.990A>G (p.Ala330=) rs1672519735

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