List of variants reported as uncertain significance for MELAS syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 152

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.895A>G (p.Met299Val)	rs140262282	0.00003
NC_012920.1(MT-CO3):m.9247G>C
NC_012920.1(MT-CYB):m.15437G>A	rs878853058
NC_012920.1(MT-CYB):m.579T>C	rs1603218447
NC_012920.1(MT-CYB):m.588T>C	rs1603218449
NC_012920.1(MT-CYB):m.624C>T	rs1603218465
NC_012920.1(MT-CYB):m.628C>T	rs1603218467
NC_012920.1(MT-CYB):m.643A>G	rs1603218472
NC_012920.1(MT-ND1):m.1608G>A	rs1603218582
NC_012920.1(MT-ND1):m.1616A>G	rs2124591018
NC_012920.1(MT-ND1):m.1619_1620insT	rs1603218585
NC_012920.1(MT-ND1):m.1629A>G	rs1603218587
NC_012920.1(MT-ND1):m.1630A>G	rs1603218588
NC_012920.1(MT-ND1):m.1631C>T	rs1603218590
NC_012920.1(MT-ND1):m.1636A>G	rs1603218591
NC_012920.1(MT-ND1):m.1638T>C	rs1603218592
NC_012920.1(MT-ND1):m.1641G>A	rs28416113
NC_012920.1(MT-ND1):m.1643A>G	rs1603218595
NC_012920.1(MT-ND1):m.1654T>C	rs1603218602
NC_012920.1(MT-ND1):m.1658T>C	rs1603218607
NC_012920.1(MT-ND5):m.13289G>A
NC_012920.1(MT-ND5):m.13912C>T
NC_012920.1(MT-ND5):m.14021T>C
NC_012920.1(MT-TA):m.5590G>A	rs28619345
NC_012920.1(MT-TA):m.5607T>C	rs1603220054
NC_012920.1(MT-TA):m.5609T>C	rs1603220058
NC_012920.1(MT-TA):m.5619G>A	rs1603220062
NC_012920.1(MT-TA):m.5645G>A	rs1603220068
NC_012920.1(MT-TA):m.5654T>C	rs1603220072
NC_012920.1(MT-TC):m.5791G>A	rs1603220121
NC_012920.1(MT-TC):m.5793A>G	rs1603220122
NC_012920.1(MT-TC):m.5802T>C	rs1603220128
NC_012920.1(MT-TC):m.5804A>G	rs1603220130
NC_012920.1(MT-TC):m.5809G>A	rs1603220134
NC_012920.1(MT-TC):m.5819T>C	rs1603220139
NC_012920.1(MT-TD):m.7518A>G	rs1603220992
NC_012920.1(MT-TD):m.7520G>A	rs1603220993
NC_012920.1(MT-TD):m.7525T>C	rs1603220995
NC_012920.1(MT-TD):m.7538T>C	rs1603221004
NC_012920.1(MT-TD):m.7555T>C	rs1603221010
NC_012920.1(MT-TD):m.7562A>G	rs1603221015
NC_012920.1(MT-TD):m.7568dup	rs1603221020
NC_012920.1(MT-TD):m.7577T>C	rs1603221025
NC_012920.1(MT-TD):m.7582C>T	rs1603221026
NC_012920.1(MT-TE):m.14681G>A	rs1603224827
NC_012920.1(MT-TE):m.14729T>C	rs1603224848
NC_012920.1(MT-TG):m.10005A>T	rs1603222621
NC_012920.1(MT-TG):m.10008A>G	rs1603222626
NC_012920.1(MT-TG):m.10014G>A	rs1603222629
NC_012920.1(MT-TG):m.10015T>C	rs28374827
NC_012920.1(MT-TG):m.10020T>C	rs1603222636
NC_012920.1(MT-TG):m.10027T>C	rs1603222638
NC_012920.1(MT-TG):m.10043del	rs1603222645
NC_012920.1(MT-TG):m.10048A>G	rs878957961
NC_012920.1(MT-TG):m.10055A>G	rs1603222653
NC_012920.1(MT-TG):m.9993T>C	rs1603222613
NC_012920.1(MT-TG):m.9996T>C	rs1556423755
NC_012920.1(MT-TH):m.12143T>C	rs1603223568
NC_012920.1(MT-TH):m.12144A>G	rs1603223569
NC_012920.1(MT-TH):m.12150T>C	rs1603223574
NC_012920.1(MT-TH):m.12163A>G	rs1603223581
NC_012920.1(MT-TH):m.12173T>A	rs1556424075
NC_012920.1(MT-TH):m.12176G>A	rs1603223594
NC_012920.1(MT-TH):m.12184A>G	rs1603223603
NC_012920.1(MT-TH):m.12185G>A	rs1603223607
NC_012920.1(MT-TH):m.12201T>C	rs387906733
NC_012920.1(MT-TH):m.12202T>C	rs1603223613
NC_012920.1(MT-TH):m.12204A>C	rs1603223614
NC_012920.1(MT-TH):m.12205C>T	rs1603223615
NC_012920.1(MT-TI):m.4264G>A	rs1603219385
NC_012920.1(MT-TI):m.4290T>C	rs121434469
NC_012920.1(MT-TI):m.4320C>A	rs1603219406
NC_012920.1(MT-TI):m.4320C>T	rs1603219406
NC_012920.1(MT-TI):m.4327T>C	rs1603219411
NC_012920.1(MT-TK):m.8301A>G	rs1603221396
NC_012920.1(MT-TK):m.8311T>A	rs371589230
NC_012920.1(MT-TK):m.8340_8341insT	rs1603221409
NC_012920.1(MT-TK):m.8358A>G	rs1603221421
NC_012920.1(MT-TK):m.8364A>T	rs1603221428
NC_012920.1(MT-TL1):m.3248G>A	rs879110136
NC_012920.1(MT-TL1):m.3250T>C	rs199474664
NC_012920.1(MT-TL1):m.3252A>T	rs199474661
NC_012920.1(MT-TL1):m.3263C>T	rs1603218860
NC_012920.1(MT-TL1):m.3269A>G	rs1603218862
NC_012920.1(MT-TL1):m.3272T>C	rs1603218865
NC_012920.1(MT-TL2):m.12278T>C	rs1603223646
NC_012920.1(MT-TL2):m.12291T>C	rs1603223653
NC_012920.1(MT-TL2):m.12293G>A	rs1603223654
NC_012920.1(MT-TL2):m.12302C>A	rs1603223658
NC_012920.1(MT-TL2):m.12302C>T	rs1603223658
NC_012920.1(MT-TL2):m.12318G>A	rs1603223664
NC_012920.1(MT-TM):m.4429G>A	rs1603219456
NC_012920.1(MT-TM):m.4451T>G	rs1603219461
NC_012920.1(MT-TM):m.4455A>G	rs878986264
NC_012920.1(MT-TM):m.4456C>T	rs1603219465
NC_012920.1(MT-TM):m.4466A>G	rs1603219467
NC_012920.1(MT-TN):m.5661A>G	rs1603220076
NC_012920.1(MT-TN):m.5669G>A	rs1603220083
NC_012920.1(MT-TN):m.5672T>C	rs1603220085
NC_012920.1(MT-TN):m.5693T>C	rs1603220092
NC_012920.1(MT-TN):m.5708C>A	rs1603220094
NC_012920.1(MT-TP):m.15976T>C	rs1603225620
NC_012920.1(MT-TP):m.15983T>C	rs1603225623
NC_012920.1(MT-TP):m.15984T>C	rs1603225624
NC_012920.1(MT-TP):m.15994A>G	rs1603225627
NC_012920.1(MT-TP):m.15995G>A	rs1603225630
NC_012920.1(MT-TP):m.16003T>C	rs1603225634
NC_012920.1(MT-TP):m.16013A>G	rs1603225636
NC_012920.1(MT-TP):m.16018_16032dup	rs1603225639
NC_012920.1(MT-TP):m.16021C>T	rs1603225641
NC_012920.1(MT-TQ):m.4339G>A	rs1603219415
NC_012920.1(MT-TQ):m.4360G>A	rs1603219422
NC_012920.1(MT-TQ):m.4399T>C	rs1603219445
NC_012920.1(MT-TQ):m.4400A>G	rs1603219449
NC_012920.1(MT-TR):m.10405T>C	rs1603222825
NC_012920.1(MT-TR):m.10457T>C	rs1603222845
NC_012920.1(MT-TR):m.10462T>C	rs1603222850
NC_012920.1(MT-TS1):m.7478G>A	rs1603220977
NC_012920.1(MT-TS1):m.7479G>A	rs1603220980
NC_012920.1(MT-TS1):m.7487C>T	rs1603220981
NC_012920.1(MT-TS1):m.7496T>C	rs1057516061
NC_012920.1(MT-TS1):m.7499C>A	rs1603220989
NC_012920.1(MT-TS2):m.12213G>A	rs1603223616
NC_012920.1(MT-TS2):m.12218C>A	rs1603223621
NC_012920.1(MT-TS2):m.12230A>G	rs1603223625
NC_012920.1(MT-TS2):m.12241dup	rs1603223633
NC_012920.1(MT-TS2):m.12247T>C	rs1603223637
NC_012920.1(MT-TS2):m.12250C>T	rs1603223639
NC_012920.1(MT-TS2):m.12255T>C	rs1603223640
NC_012920.1(MT-TT):m.15888G>A	rs1603225568
NC_012920.1(MT-TT):m.15890C>T	rs527236196
NC_012920.1(MT-TT):m.15897G>A	rs1603225575
NC_012920.1(MT-TT):m.15909A>T	rs1556424690
NC_012920.1(MT-TT):m.15921T>C	rs1603225593
NC_012920.1(MT-TT):m.15950G>A	rs118203890
NC_012920.1(MT-TW):m.5524T>C	rs1603220004
NC_012920.1(MT-TW):m.5542C>T	rs1603220015
NC_012920.1(MT-TW):m.5544T>C	rs1603220018
NC_012920.1(MT-TW):m.5550C>T	rs1603220019
NC_012920.1(MT-TW):m.5559A>G	rs1556423008
NC_012920.1(MT-TW):m.5560G>A	rs1603220026
NC_012920.1(MT-TW):m.5573A>G	rs1603220033
NC_012920.1(MT-TW):m.5575T>C	rs1603220034
NC_012920.1(MT-TY):m.5837G>A	rs1603220147
NC_012920.1(MT-TY):m.5840C>A	rs1603220149
NC_012920.1(MT-TY):m.5841T>C	rs1603220150
NC_012920.1(MT-TY):m.5852T>C	rs1603220153
NC_012920.1(MT-TY):m.5858T>C	rs1603220157
NC_012920.1(MT-TY):m.5864G>A	rs1603220158
NC_012920.1(MT-TY):m.5865T>C	rs1603220159
NC_012920.1(MT-TY):m.5885T>C	rs1603220164
NC_012920.1(MT-TY):m.5889A>G	rs1603220167

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