List of variants in gene NBEA reported as likely pathogenic for Neurodevelopmental disorder with or without early-onset generalized epilepsy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_001385012.1(NBEA):c.2086C>T (p.Arg696Ter)	rs1296627050
NM_001385012.1(NBEA):c.2578G>T (p.Glu860Ter)	rs2503578399
NM_001385012.1(NBEA):c.3001C>T (p.Arg1001Ter)	rs779764549
NM_001385012.1(NBEA):c.3362del (p.Asn1121fs)	rs763376147
NM_001385012.1(NBEA):c.3362dup (p.Asn1121fs)	rs763376147
NM_001385012.1(NBEA):c.3733G>T (p.Glu1245Ter)	rs2503639083
NM_001385012.1(NBEA):c.3894C>A (p.Asp1298Glu)	rs2069582666
NM_001385012.1(NBEA):c.4080-2A>C
NM_001385012.1(NBEA):c.411G>A (p.Trp137Ter)	rs2502185013
NM_001385012.1(NBEA):c.4484del (p.Asn1495fs)
NM_001385012.1(NBEA):c.4715C>A (p.Ser1572Ter)	rs1265307831
NM_001385012.1(NBEA):c.5755G>T (p.Gly1919Ter)
NM_001385012.1(NBEA):c.6013-1G>A
NM_001385012.1(NBEA):c.6304+5G>T	rs2152930968
NM_001385012.1(NBEA):c.6707del (p.Thr2235_Ser2236insTer)	rs2549714620
NM_001385012.1(NBEA):c.7519C>T (p.Arg2507Ter)	rs2549940466
NM_001385012.1(NBEA):c.7928G>A (p.Arg2643Gln)
NM_001385012.1(NBEA):c.8321G>A (p.Trp2774Ter)	rs2550006957
NM_001385012.1(NBEA):c.8596C>T (p.Arg2866Ter)	rs1288199769

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