List of variants in gene KCNA2 reported as pathogenic for amino acid metabolism disease

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NC_000001.11:g.(?_110593873)_(110604802_?)del
NM_004974.4(KCNA2):c.1013G>A (p.Gly338Glu)	rs1553181301
NM_004974.4(KCNA2):c.1015G>T (p.Val339Phe)
NM_004974.4(KCNA2):c.1118C>T (p.Thr373Ile)	rs1553181282
NM_004974.4(KCNA2):c.1120A>G (p.Thr374Ala)	rs1553181280
NM_004974.4(KCNA2):c.1193G>A (p.Gly398Asp)
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_004974.4(KCNA2):c.1216G>T (p.Val406Phe)	rs1553181257
NM_004974.4(KCNA2):c.1219C>G (p.Pro407Ala)	rs1557731896
NM_004974.4(KCNA2):c.1220C>G (p.Pro407Arg)	rs2101396301
NM_004974.4(KCNA2):c.1223T>C (p.Val408Ala)	rs1570752696
NM_004974.4(KCNA2):c.181del (p.Asp61fs)
NM_004974.4(KCNA2):c.193C>T (p.Arg65Ter)	rs763353895
NM_004974.4(KCNA2):c.239G>A (p.Arg80Gln)	rs1649513909
NM_004974.4(KCNA2):c.298C>T (p.Arg100Ter)	rs1649509389
NM_004974.4(KCNA2):c.636C>G (p.Tyr212Ter)
NM_004974.4(KCNA2):c.637C>T (p.Gln213Ter)
NM_004974.4(KCNA2):c.730T>C (p.Cys244Arg)
NM_004974.4(KCNA2):c.765_773del (p.Met255_Ile257del)	rs2101399429
NM_004974.4(KCNA2):c.773T>A (p.Ile258Asn)
NM_004974.4(KCNA2):c.788T>C (p.Ile263Thr)	rs786205231
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)	rs886041761
NM_004974.4(KCNA2):c.889C>T (p.Arg297Trp)	rs1649473972
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln)	rs786205232
NM_004974.4(KCNA2):c.894G>T (p.Leu298Phe)	rs876657390
NM_004974.4(KCNA2):c.900A>C (p.Arg300Ser)
NM_004974.4(KCNA2):c.925A>G (p.Arg309Gly)	rs2101398407

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