ClinVar Miner

List of variants in gene DOK7 reported as uncertain significance for fetal akinesia deformation sequence 3

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_173660.5(DOK7):c.968G>A (p.Arg323His) rs763188032 0.00004
NM_173660.5(DOK7):c.1294A>G (p.Arg432Gly) rs1390831169 0.00003
NM_173660.5(DOK7):c.857A>G (p.Glu286Gly) rs754105518 0.00003
NM_173660.5(DOK7):c.1226G>A (p.Arg409His) rs377528603 0.00002
NM_173660.5(DOK7):c.1058C>T (p.Ser353Leu) rs757019137 0.00001
NM_173660.5(DOK7):c.193C>T (p.Leu65=) rs546630800 0.00001
NM_173660.5(DOK7):c.1258C>T (p.Pro420Ser) rs150497723
NM_173660.5(DOK7):c.1487G>T (p.Gly496Val) rs373205256

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