ClinVar Miner

List of variants studied for neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures by Mendelics

Included ClinVar conditions (2):

Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures; Parkinsonism-dystonia 3, childhood-onset

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)	rs139548132	0.00360
NM_015836.4(WARS2):c.526G>T (p.Val176Phe)	rs745543661	0.00001
NM_015836.4(WARS2):c.37T>A (p.Trp13Arg)
NM_015836.4(WARS2):c.37T>C (p.Trp13Arg)
NM_015836.4(WARS2):c.680T>C (p.Met227Thr)	rs2101095108

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