ClinVar Miner

List of variants in gene KCTD7 studied for Inborn genetic diseases

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_153033.5(KCTD7):c.267G>A (p.Thr89=) rs3764904 0.08655
NM_153033.5(KCTD7):c.654C>T (p.Asp218=) rs117194263 0.01331
NM_153033.5(KCTD7):c.384G>A (p.Glu128=) rs145238250 0.00148
NM_153033.5(KCTD7):c.273C>T (p.Ser91=) rs139585796 0.00034
NM_153033.5(KCTD7):c.507G>C (p.Arg169=) rs142379946 0.00031
NM_153033.5(KCTD7):c.687T>C (p.Asp229=) rs372150992 0.00024
NM_153033.5(KCTD7):c.168C>T (p.Asn56=) rs371824397 0.00014
NM_153033.5(KCTD7):c.192A>G (p.Thr64=) rs142526573 0.00014
NM_153033.5(KCTD7):c.362G>T (p.Arg121Leu) rs199624315 0.00013
NM_153033.5(KCTD7):c.193C>T (p.Arg65Cys) rs200321023 0.00010
NM_153033.5(KCTD7):c.256T>C (p.Tyr86His) rs149255570 0.00006
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) rs201296399 0.00005
NM_153033.5(KCTD7):c.523C>T (p.Arg175Trp) rs568539835 0.00004
NM_153033.5(KCTD7):c.145T>C (p.Phe49Leu) rs559020294 0.00003
NM_153033.5(KCTD7):c.439C>T (p.Leu147=) rs574847246 0.00002
NM_153033.5(KCTD7):c.723T>G (p.Val241=) rs771832195 0.00002
NM_153033.5(KCTD7):c.181C>T (p.His61Tyr) rs368018261 0.00001
NM_153033.5(KCTD7):c.274G>A (p.Glu92Lys) rs780710316 0.00001
NM_153033.5(KCTD7):c.430A>G (p.Met144Val) rs749618351 0.00001
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys) rs387907246 0.00001
NM_153033.5(KCTD7):c.774C>T (p.Thr258=) rs751953589 0.00001
NM_153033.5(KCTD7):c.145-2A>G rs1554397774
NM_153033.5(KCTD7):c.177G>A (p.Gly59=)
NM_153033.5(KCTD7):c.185_186delinsCT (p.Phe62Ser)
NM_153033.5(KCTD7):c.227T>C (p.Met76Thr)
NM_153033.5(KCTD7):c.392A>T (p.Tyr131Phe)
NM_153033.5(KCTD7):c.616C>G (p.Leu206Val)
NM_153033.5(KCTD7):c.631C>T (p.Arg211Ter) rs750811871
NM_153033.5(KCTD7):c.735G>T (p.Leu245=)
NM_153033.5(KCTD7):c.754C>G (p.Leu252Val) rs200652879

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