List of variants in gene JAG2 reported as pathogenic for hereditary skeletal muscle disorder

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_002226.5(JAG2):c.2044C>T (p.Pro682Ser)	rs200708284	0.00019
NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg)	rs781734780	0.00006
NM_002226.5(JAG2):c.1219_1225del (p.Phe407fs)	rs2140979845
NM_002226.5(JAG2):c.221G>C (p.Cys74Ser)	rs2141000225
NM_002226.5(JAG2):c.490G>A (p.Glu164Lys)	rs1888570315
NM_002226.5(JAG2):c.728C>A (p.Ala243Asp)	rs867073471

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