ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568
NM_006623.4(PHGDH):c.1273G>A (p.Val425Met) rs121907988
NM_006623.4(PHGDH):c.357-1G>A rs766427173
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg) rs587777770
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln) rs587777483
NM_006623.4(PHGDH):c.793G>A (p.Glu265Lys) rs587777774
NM_006623.4(PHGDH):c.856G>C (p.Ala286Pro) rs587777775

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