ClinVar Miner

List of variants in gene KCNQ4 reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_004700.4(KCNQ4):c.1292+12G>A rs200426006 0.00200
NM_004700.4(KCNQ4):c.1231C>T (p.Arg411Cys) rs199809248 0.00153
NM_004700.4(KCNQ4):c.465A>C (p.Gly155=) rs145129529 0.00082
NM_004700.4(KCNQ4):c.1413T>C (p.Gly471=) rs144810195 0.00041
NM_004700.4(KCNQ4):c.438G>A (p.Glu146=) rs144434662 0.00025
NM_004700.4(KCNQ4):c.1572C>T (p.Asp524=) rs568177070 0.00023
NM_004700.4(KCNQ4):c.735G>A (p.Gly245=) rs147751558 0.00016
NM_004700.4(KCNQ4):c.909C>T (p.Phe303=) rs773015201 0.00011
NM_004700.4(KCNQ4):c.1668C>T (p.Tyr556=) rs140945833 0.00010
NM_004700.4(KCNQ4):c.2028C>T (p.Asp676=) rs552843990 0.00009
NM_004700.4(KCNQ4):c.1263G>A (p.Pro421=) rs727503105 0.00005
NM_004700.4(KCNQ4):c.315-9T>C rs548061300 0.00005
NM_004700.4(KCNQ4):c.1179C>T (p.Gly393=) rs1431582898 0.00001
NM_004700.4(KCNQ4):c.1770G>A (p.Gly590=) rs762279980 0.00001
NM_004700.4(KCNQ4):c.1042-11dup rs876657480
NM_004700.4(KCNQ4):c.1130+13G>T rs1553167606
NM_004700.4(KCNQ4):c.699G>C (p.Ala233=) rs727504788
NM_004700.4(KCNQ4):c.720C>G (p.Thr240=) rs752131356
NM_004700.4(KCNQ4):c.834+12T>C rs1031548085

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