ClinVar Miner

List of variants studied for MELAS syndrome by Mendelics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NC_012920.1(MT-ND1):m.1624C>T rs199476144
NC_012920.1(MT-ND1):m.1630A>G rs1603218588
NC_012920.1(MT-ND1):m.1644G>A rs587776441
NC_012920.1(MT-ND1):m.1659T>C rs1603218609
NC_012920.1(MT-TK):m.8344A>G rs118192098
NC_012920.1(MT-TK):m.8356T>C rs118192099
NC_012920.1(MT-TK):m.8362T>G rs1603221423
NC_012920.1(MT-TK):m.8363G>A rs118192100
NC_012920.1(MT-TL1):m.3242G>A rs193303018
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NC_012920.1(MT-TL1):m.3243A>T rs199474657
NC_012920.1(MT-TL1):m.3251A>G rs199474662
NC_012920.1(MT-TL1):m.3255G>A rs1603218856
NC_012920.1(MT-TL1):m.3271T>C rs199474658
NC_012920.1(MT-TL1):m.3291T>C rs869312463
NC_012920.1(MT-TL1):m.3302A>G rs1603218878
NC_012920.1(MT-TL1):m.3303C>T rs199474660
NC_012920.1(MT-TS2):m.12207G>A rs118203889
NC_012920.1(MT-TS2):m.12258C>T rs118203888
NC_012920.1(MT-TS2):m.12264C>T rs1603223642
NC_012920.1(MT-TW):m.5521G>A rs199474673
NC_012920.1(MT-TW):m.5532G>A rs199474674
NC_012920.1(MT-TW):m.5540G>A rs1603220014
NC_012920.1(MT-TW):m.5543T>C rs1603220016

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