ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 39 by Illumina Laboratory Services, Illumina

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003705.5(SLC25A12):c.*994C>T	rs189758490	0.00001
NM_003705.4(SLC25A12):c.-67_-66GC[7]	rs759200327
NM_003705.5(SLC25A12):c.13G>A (p.Val5Met)	rs201557997

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