ClinVar Miner

List of variants in gene NBEA reported as likely pathogenic for not provided

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Total variants: 9
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 13q13.3(chr13:35863322-35911764)x1
NM_001385012.1(NBEA):c.1735A>G (p.Lys579Glu)
NM_001385012.1(NBEA):c.3337_3338del (p.Gly1113fs) rs2069405903
NM_001385012.1(NBEA):c.4017G>A (p.Met1339Ile) rs2069591720
NM_001385012.1(NBEA):c.4242+2T>A
NM_001385012.1(NBEA):c.5367-2A>T rs2073566187
NM_001385012.1(NBEA):c.739C>T (p.Pro247Ser)
NM_001385012.1(NBEA):c.7771del (p.Cys2591fs) rs2084421079
NM_001385012.1(NBEA):c.8156G>A (p.Trp2719Ter) rs2084744538

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