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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter)	rs769256568	0.00001
NM_006623.4(PHGDH):c.1273G>A (p.Val425Met)	rs121907988	0.00001
NM_006623.4(PHGDH):c.357-1G>A	rs766427173	0.00001
NM_006623.4(PHGDH):c.1A>C (p.Met1Leu)
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.765del (p.Ala257fs)
NM_006623.4(PHGDH):c.793G>A (p.Glu265Lys)	rs587777774
NM_006623.4(PHGDH):c.856G>C (p.Ala286Pro)	rs587777775

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