ClinVar Miner

List of variants studied for Neurodevelopmental disorder with poor language and loss of hand skills by Genome-Nilou Lab

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005458.8(GABBR2):c.375T>G (p.Pro125=) rs2808536 0.77371
NM_005458.8(GABBR2):c.2413-4G>C rs970388 0.19916
NM_005458.8(GABBR2):c.2005-22C>T rs2304390 0.16356
NM_005458.8(GABBR2):c.2052C>T (p.Pro684=) rs2304389 0.16316

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