ClinVar Miner

List of variants reported as uncertain significance for acrocallosal syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP
NM_198525.3(KIF7):c.*133G>T rs762353041
NM_198525.3(KIF7):c.*191T>A rs559070002
NM_198525.3(KIF7):c.*238C>T rs555507825
NM_198525.3(KIF7):c.*36C>T rs370152166
NM_198525.3(KIF7):c.*37G>A rs147387691
NM_198525.3(KIF7):c.*87C>A rs886051528
NM_198525.3(KIF7):c.-75G>A rs886051545
NM_198525.3(KIF7):c.1157A>T (p.His386Leu) rs886051537
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys) rs553968087
NM_198525.3(KIF7):c.1218C>G (p.Gly406=) rs886051536
NM_198525.3(KIF7):c.1221C>T (p.Ala407=) rs886051535
NM_198525.3(KIF7):c.1266C>G (p.Leu422=) rs8030837
NM_198525.3(KIF7):c.1290C>T (p.Pro430=) rs886051534
NM_198525.3(KIF7):c.1296G>A (p.Leu432=) rs886051533
NM_198525.3(KIF7):c.1358C>T (p.Ala453Val) rs886051532
NM_198525.3(KIF7):c.1390A>G (p.Ile464Val) rs570856269
NM_198525.3(KIF7):c.2074C>G (p.Gln692Glu) rs565633539
NM_198525.3(KIF7):c.2077G>T (p.Val693Phe) rs550326630
NM_198525.3(KIF7):c.2079C>T (p.Val693=) rs113112856
NM_198525.3(KIF7):c.208G>A (p.Val70Met) rs761934745
NM_198525.3(KIF7):c.2192-13C>T rs201251064
NM_198525.3(KIF7):c.2235C>T (p.Ile745=) rs886051531
NM_198525.3(KIF7):c.2321T>C (p.Leu774Pro) rs762864604
NM_198525.3(KIF7):c.2322C>A (p.Leu774=) rs145339415
NM_198525.3(KIF7):c.2337G>A (p.Glu779=) rs202089770
NM_198525.3(KIF7):c.2341T>C (p.Ser781Pro) rs886051530
NM_198525.3(KIF7):c.2364G>C (p.Arg788Ser) rs117123311
NM_198525.3(KIF7):c.2426G>A (p.Arg809Gln) rs758378987
NM_198525.3(KIF7):c.2599G>T (p.Glu867Ter) rs1328669185
NM_198525.3(KIF7):c.2613G>A (p.Glu871=) rs370595622
NM_198525.3(KIF7):c.294A>G (p.Ser98=) rs145049849
NM_198525.3(KIF7):c.3112-10G>A rs370548253
NM_198525.3(KIF7):c.3252C>T (p.Leu1084=) rs77896636
NM_198525.3(KIF7):c.3514C>A (p.Arg1172=) rs138196132
NM_198525.3(KIF7):c.3759C>G (p.Pro1253=) rs147767277
NM_198525.3(KIF7):c.376G>A (p.Glu126Lys) rs886051544
NM_198525.3(KIF7):c.3914G>A (p.Arg1305Gln) rs138993311
NM_198525.3(KIF7):c.3957G>T (p.Gly1319=) rs886051529
NM_198525.3(KIF7):c.3960T>A (p.Pro1320=) rs141028210
NM_198525.3(KIF7):c.3999G>C (p.Pro1333=) rs137993810
NM_198525.3(KIF7):c.405C>A (p.Asp135Glu) rs886051543
NM_198525.3(KIF7):c.418C>T (p.Leu140=) rs756117745
NM_198525.3(KIF7):c.619G>A (p.Ala207Thr) rs886051542
NM_198525.3(KIF7):c.623C>T (p.Thr208Met) rs886051541
NM_198525.3(KIF7):c.643A>G (p.Ser215Gly) rs886051540
NM_198525.3(KIF7):c.719C>T (p.Pro240Leu) rs886051539
NM_198525.3(KIF7):c.924-14C>T rs573998309
NM_198525.3(KIF7):c.952G>A (p.Ala318Thr) rs756368261
NM_198525.3(KIF7):c.960G>A (p.Thr320=) rs886051538

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