ClinVar Miner

List of variants in gene KIF7 reported as pathogenic for acrocallosal syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_198525.3(KIF7):c.157C>T (p.Arg53Ter) rs569323391
NM_198525.3(KIF7):c.1643dup (p.Arg549fs) rs1555424684
NM_198525.3(KIF7):c.2164G>T (p.Glu722Ter) rs1555424505
NM_198525.3(KIF7):c.217del (p.Ala73fs) rs797044465
NM_198525.3(KIF7):c.2593-3C>G rs774403667
NM_198525.3(KIF7):c.2896_2897del (p.Ala966fs) rs752248403
NM_198525.3(KIF7):c.2917C>T (p.Arg973Ter) rs202229910
NM_198525.3(KIF7):c.2944G>T (p.Glu982Ter) rs797045093
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) rs138410949
NM_198525.3(KIF7):c.3001C>T (p.Gln1001Ter) rs387907045
NM_198525.3(KIF7):c.3331C>T (p.Arg1111Ter) rs778139192
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser) rs758361736
NM_198525.3(KIF7):c.460C>T (p.Arg154Ter) rs387907044
NM_198525.3(KIF7):c.587dup (p.Glu197fs) rs797044463
NM_198525.3(KIF7):c.67C>T (p.Arg23Ter) rs1235928535
NM_198525.3(KIF7):c.687del (p.Arg230fs) rs797044464
NM_198525.3(KIF7):c.811del (p.Glu271fs) rs797044466

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