ClinVar Miner

List of variants in gene KCTD7 reported as benign for congenital nervous system disorder

Included ClinVar conditions (854):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_153033.5(KCTD7):c.*944C>G rs9791712 0.67438
NM_153033.5(KCTD7):c.*2656A>G rs1860469 0.67430
NM_153033.5(KCTD7):c.*979C>A rs9791713 0.67429
NM_153033.5(KCTD7):c.*3033T>C rs1860468 0.51466
NM_153033.5(KCTD7):c.493+18_493+21dup rs57580125 0.11765
NM_153033.5(KCTD7):c.*3752C>G rs73133851 0.10548
NM_153033.5(KCTD7):c.*2805C>T rs1267818 0.09731
NM_153033.5(KCTD7):c.267G>A (p.Thr89=) rs3764904 0.08655
NM_153033.5(KCTD7):c.*2080A>G rs73702140 0.04327
NM_153033.5(KCTD7):c.*1727G>C rs17229513 0.03560
NM_153033.5(KCTD7):c.*708C>T rs79736939 0.02502
NM_153033.5(KCTD7):c.*880T>C rs117143942 0.01621
NM_153033.4(KCTD7):c.*3961C>T rs144713969 0.01510
NM_153033.5(KCTD7):c.654C>T (p.Asp218=) rs117194263 0.01331
NM_153033.5(KCTD7):c.*9G>T rs116630203 0.00745
NM_153033.5(KCTD7):c.*216A>G rs77341088 0.00380
NM_153033.5(KCTD7):c.384G>A (p.Glu128=) rs145238250 0.00148
NM_153033.5(KCTD7):c.*1926G>A rs117267079 0.00043
NM_153033.5(KCTD7):c.256T>C (p.Tyr86His) rs149255570 0.00006
NM_153033.5(KCTD7):c.*690G>C rs4718382

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