ClinVar Miner

List of variants reported as likely benign for acrocallosal syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_198525.3(KIF7):c.*430dup rs113145397
NM_198525.3(KIF7):c.-52G>T rs116805116
NM_198525.3(KIF7):c.-5T>G rs62021460
NM_198525.3(KIF7):c.1189G>A (p.Ala397Thr) rs535621809
NM_198525.3(KIF7):c.1444-4A>G rs112333674
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu) rs115857753
NM_198525.3(KIF7):c.2043T>A (p.Val681=) rs72750755
NM_198525.3(KIF7):c.216G>A (p.Gln72=) rs113881220
NM_198525.3(KIF7):c.2271C>T (p.Ala757=) rs35451920
NM_198525.3(KIF7):c.2421G>C (p.Thr807=) rs141497185
NM_198525.3(KIF7):c.2481C>T (p.Asn827=) rs35837280
NM_198525.3(KIF7):c.3012C>T (p.Arg1004=) rs61741227
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) rs142032413

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