List of variants in gene KCNQ3 reported as likely pathogenic for electroclinical syndrome

Minimum submission review status:		Collection method:
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: 16

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HGVS	dbSNP	gnomAD frequency
NM_004519.4(KCNQ3):c.1091G>A (p.Arg364His)	rs1204519015	0.00001
NC_000008.11:g.(?_132180137)_(132186201_?)dup
NM_004519.4(KCNQ3):c.1045-1G>T	rs1826416962
NM_004519.4(KCNQ3):c.104_105del (p.Ala35fs)	rs1822523749
NM_004519.4(KCNQ3):c.1066G>A (p.Ala356Thr)	rs2130121430
NM_004519.4(KCNQ3):c.1120C>G (p.Pro374Ala)
NM_004519.4(KCNQ3):c.1123G>A (p.Ala375Thr)	rs2130121106
NM_004519.4(KCNQ3):c.1262+1G>T
NM_004519.4(KCNQ3):c.38GCG[5] (p.Gly16dup)	rs981093917
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)	rs796052676
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004519.4(KCNQ3):c.777+1G>T
NM_004519.4(KCNQ3):c.899T>C (p.Phe300Ser)	rs1554627439
NM_004519.4(KCNQ3):c.929G>A (p.Gly310Asp)	rs118192250
NM_004519.4(KCNQ3):c.951T>G (p.Ile317Met)	rs2130128566
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys)	rs118192251

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