ClinVar Miner

List of variants reported as likely pathogenic by National Institute of Mental Health and Neurosciences

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Total variants: 7
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HGVS dbSNP
NM_000159.4(GCDH):c.*165A>G rs8012
NM_000159.4(GCDH):c.*288G>T rs9384
NM_000159.4(GCDH):c.1031C>T (p.Thr344Ile) rs869025299
NM_000159.4(GCDH):c.1167_1168insT (p.Gly390fs) rs1568429257
NM_000159.4(GCDH):c.1173del (p.Asn392fs) rs754002357
NM_000159.4(GCDH):c.852+223C>T rs11085825
NM_000159.4(GCDH):c.856C>T (p.Pro286Ser) rs786205861

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