ClinVar Miner

List of variants studied for developmental and epileptic encephalopathy, 41 by OMIM

Included ClinVar conditions (1):

Developmental and epileptic encephalopathy, 41

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

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004171.4(SLC1A2):c.244G>A (p.Gly82Arg)	rs886037942
NM_004171.4(SLC1A2):c.244G>C (p.Gly82Arg)	rs886037942
NM_004171.4(SLC1A2):c.254T>C (p.Leu85Pro)	rs886037943
NM_004171.4(SLC1A2):c.866C>G (p.Pro289Arg)	rs781379291

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