ClinVar Miner

List of variants studied for acrocallosal syndrome by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_198525.3(KIF7):c.1164C>T (p.Gly388=) rs975756878
NM_198525.3(KIF7):c.1297C>A (p.Pro433Thr) rs932033181
NM_198525.3(KIF7):c.1433G>A (p.Gly478Asp)
NM_198525.3(KIF7):c.1444-4A>G rs112333674
NM_198525.3(KIF7):c.157C>T (p.Arg53Ter) rs569323391
NM_198525.3(KIF7):c.1643C>T (p.Pro548Leu)
NM_198525.3(KIF7):c.1918C>T (p.Arg640Cys)
NM_198525.3(KIF7):c.2043T>A (p.Val681=) rs72750755
NM_198525.3(KIF7):c.2060G>A (p.Arg687Gln) rs200123657
NM_198525.3(KIF7):c.2131C>T (p.Arg711Trp) rs1255667027
NM_198525.3(KIF7):c.2219A>G (p.Gln740Arg) rs147679100
NM_198525.3(KIF7):c.2420C>A (p.Thr807Lys) rs757175418
NM_198525.3(KIF7):c.2421G>C (p.Thr807=) rs141497185
NM_198525.3(KIF7):c.2426G>A (p.Arg809Gln) rs758378987
NM_198525.3(KIF7):c.2654C>T (p.Ala885Val) rs774073055
NM_198525.3(KIF7):c.2735A>G (p.Lys912Arg) rs764430327
NM_198525.3(KIF7):c.2815C>T (p.Arg939Trp) rs142786336
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.3061C>T (p.Arg1021Cys)
NM_198525.3(KIF7):c.3197G>A (p.Arg1066His)
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) rs142032413
NM_198525.3(KIF7):c.3456G>C (p.Gln1152His)
NM_198525.3(KIF7):c.3518-1G>C rs1567057019
NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp)
NM_198525.3(KIF7):c.3893C>T (p.Ala1298Val)
NM_198525.3(KIF7):c.3968A>G (p.Lys1323Arg) rs537735484
NM_198525.3(KIF7):c.461G>A (p.Arg154Gln) rs180758272

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