ClinVar Miner

List of variants in gene KCNQ3 reported as likely pathogenic

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_004519.4(KCNQ3):c.878G>A (p.Gly293Glu) rs1064795142 0.00003
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.1067C>T (p.Ala356Val) rs1554627025
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.194G>C (p.Gly65Ala) rs1822519573
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.797A>G (p.Tyr266Cys) rs796052677
NM_004519.4(KCNQ3):c.899T>C (p.Phe300Ser) rs1554627439
NM_004519.4(KCNQ3):c.913G>T (p.Asp305Tyr) rs1085307996
NM_004519.4(KCNQ3):c.917C>T (p.Ala306Val) rs796052678
NM_004519.4(KCNQ3):c.923G>C (p.Trp308Ser) rs1064794632
NM_004519.4(KCNQ3):c.929G>A (p.Gly310Asp) rs118192250
NM_004519.4(KCNQ3):c.933G>A (p.Leu311=) rs2130133290
NM_004519.4(KCNQ3):c.938C>T (p.Thr313Ile) rs1826478037
NM_004519.4(KCNQ3):c.950T>C (p.Ile317Thr) rs1586800133
NM_004519.4(KCNQ3):c.951T>G (p.Ile317Met) rs2130128566
NM_004519.4(KCNQ3):c.956A>G (p.Tyr319Cys) rs1554627218
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys) rs118192251
NM_004519.4(KCNQ3):c.989G>A (p.Arg330His) rs1162306056

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