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

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)	rs121907987	0.00006
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser)	rs267606948	0.00002
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter)	rs769256568	0.00001
NM_006623.4(PHGDH):c.357-1G>A	rs766427173	0.00001
NM_006623.4(PHGDH):c.1078+1G>A	rs1224279673
NM_006623.4(PHGDH):c.1394del (p.Leu465fs)
NM_006623.4(PHGDH):c.290+2T>C	rs886041874
NM_006623.4(PHGDH):c.2T>C (p.Met1Thr)	rs951372478
NM_006623.4(PHGDH):c.412-1G>C	rs1651455730
NM_006623.4(PHGDH):c.781G>A (p.Val261Met)	rs267606947
NM_006623.4(PHGDH):c.901del (p.Val301fs)	rs1571013274

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