ClinVar Miner

List of variants reported as likely benign for Molybdenum cofactor deficiency, complementation group A by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

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Total variants: 3
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HGVS dbSNP
NM_001358530.2(MOCS1):c.124-69G>A rs45487695
NM_020806.4(GPHN):c.26C>G (p.Thr9Ser) rs150226537
NM_020806.4(GPHN):c.800A>G (p.Asn267Ser) rs41285470

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