ClinVar Miner

List of variants reported as likely pathogenic for Neu-Laxova syndrome 1

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Total variants: 3
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NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp) rs587731325
NM_006623.4(PHGDH):c.781G>A (p.Val261Met) rs267606947

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