List of variants in gene PARS2 reported as pathogenic for developmental and epileptic encephalopathy

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg)	rs35201073	0.00128
NM_152268.4(PARS2):c.283G>A (p.Val95Ile)	rs147227819	0.00005
NM_152268.4(PARS2):c.836C>T (p.Ser279Leu)	rs730882153	0.00001
NM_152268.4(PARS2):c.1130dup (p.Pro377_Lys378insTer)	rs730882152
NM_152268.4(PARS2):c.239T>C (p.Ile80Thr)	rs1246773873
NM_152268.4(PARS2):c.604C>G (p.Arg202Gly)	rs141760650
NM_152268.4(PARS2):c.607G>A (p.Glu203Lys)	rs1557762729

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