ClinVar Miner

List of variants studied for acrocallosal syndrome by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_198525.3(KIF7):c.2896_2897del (p.Ala966fs) rs752248403 0.00006
NM_198525.3(KIF7):c.587dup (p.Glu197fs) rs797044463 0.00006
NM_198525.3(KIF7):c.460C>T (p.Arg154Ter) rs387907044 0.00001
NM_198525.3(KIF7):c.217del (p.Ala73fs) rs797044465
NM_198525.3(KIF7):c.3001C>T (p.Gln1001Ter) rs387907045
NM_198525.3(KIF7):c.687del (p.Arg230fs) rs797044464
NM_198525.3(KIF7):c.811del (p.Glu271fs) rs797044466

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