ClinVar Miner

List of variants in gene KCNQ3 reported as likely pathogenic by Invitae

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NC_000008.11:g.(?_132180137)_(132186201_?)dup
NM_004519.4(KCNQ3):c.1045-1G>T rs1826416962
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.777+1G>T
NM_004519.4(KCNQ3):c.929G>A (p.Gly310Asp) rs118192250
NM_004519.4(KCNQ3):c.951T>G (p.Ile317Met) rs2130128566

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