List of variants in gene ARV1 studied for Developmental and epileptic encephalopathy, 38

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_022786.3(ARV1):c.175-11T>C	rs10779804	0.32756
NM_022786.3(ARV1):c.565G>A (p.Gly189Arg)	rs730882241	0.00002
NM_022786.3(ARV1):c.175-2A>G	rs1294383261	0.00001
NM_022786.3(ARV1):c.294+1G>A	rs150619347	0.00001
NM_022786.3(ARV1):c.363_364del (p.Ser122fs)	rs769858809	0.00001
NM_022786.3(ARV1):c.175-3_175-2inv
NM_022786.3(ARV1):c.179C>A (p.Ser60Tyr)
NM_022786.3(ARV1):c.292_294+1del	rs1679141808
NM_022786.3(ARV1):c.518dup (p.Pro174fs)	rs544784472
NM_022786.3(ARV1):c.573_574del (p.Leu192fs)
NM_022786.3(ARV1):c.594_595del (p.Ile198fs)
NM_022786.3(ARV1):c.674-2A>T	rs1192627743
NM_022786.3(ARV1):c.691C>T (p.Arg231Cys)

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