List of variants in gene UGDH studied for Developmental and epileptic encephalopathy, 84

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_003359.4(UGDH):c.193C>T (p.Arg65Ter)	rs200059198	0.00011
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln)	rs775162839	0.00006
NM_003359.4(UGDH):c.131C>T (p.Ala44Val)	rs749975104	0.00004
NM_003359.4(UGDH):c.1177C>T (p.Arg393Trp)	rs113094436	0.00002
NM_003359.4(UGDH):c.311C>T (p.Ala104Val)	rs1420419492	0.00002
NM_003359.4(UGDH):c.949C>T (p.Arg317Trp)	rs779173046	0.00002
NM_003359.4(UGDH):c.304C>T (p.Arg102Trp)	rs779742282	0.00001
NM_003359.4(UGDH):c.41A>G (p.Tyr14Cys)	rs369608407	0.00001
NM_003359.4(UGDH):c.1009G>A (p.Ala337Thr)
NM_003359.4(UGDH):c.1066T>C (p.Tyr356His)
NM_003359.4(UGDH):c.1100A>G (p.Tyr367Cys)	rs1578264574
NM_003359.4(UGDH):c.1136A>T (p.Asp379Val)
NM_003359.4(UGDH):c.214T>G (p.Ser72Ala)	rs769243823
NM_003359.4(UGDH):c.244G>A (p.Ala82Thr)	rs1578274054
NM_003359.4(UGDH):c.38G>C (p.Gly13Ala)
NM_003359.4(UGDH):c.528_531del (p.Asp176fs)
NM_003359.4(UGDH):c.927C>G (p.Tyr309Ter)	rs2475058989

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