ClinVar Miner

List of variants studied for leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_018122.5(DARS2):c.128-4A>T rs769597479 0.00300
NM_018122.5(DARS2):c.1825C>T (p.Arg609Trp) rs200670286 0.00001

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