ClinVar Miner

List of variants reported as likely pathogenic for Glutaric aciduria, type 1 by Department of Biotechnology and Microbiology, Karnatak University Dharwad

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.566G>C (p.Ser189Thr) rs764774411
NM_000159.4(GCDH):c.674G>C (p.Trp225Ser) rs1568427678

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