ClinVar Miner

List of variants reported as uncertain significance for Glutaric aciduria, type 1 by National Institute of Mental Health and Neurosciences

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.*340G>A rs190174770 0.00014
NM_000159.4(GCDH):c.885C>T (p.Tyr295=) rs139192015 0.00006
NM_000159.4(GCDH):c.*331T>C rs869025297
NM_000159.4(GCDH):c.*332C>A rs869025298

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