ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) rs138410949 0.00203
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.61C>T (p.Arg21Ter) rs794727316 0.00003
NM_198525.3(KIF7):c.1106del (p.Ala369fs) rs886041531 0.00002
NM_198525.3(KIF7):c.2593-3C>G rs774403667 0.00002
NM_198525.3(KIF7):c.1019dup (p.Asn341fs) rs1964065704 0.00001
NM_198525.3(KIF7):c.157C>T (p.Arg53Ter) rs569323391 0.00001
NM_198525.3(KIF7):c.2944G>T (p.Glu982Ter) rs797045093 0.00001
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser) rs758361736 0.00001
NM_198525.3(KIF7):c.460C>T (p.Arg154Ter) rs387907044 0.00001
NM_198525.3(KIF7):c.67C>T (p.Arg23Ter) rs1235928535 0.00001
NC_000015.9:g.(?_90171650)_(90177134_?)del
NC_000015.9:g.(?_90176897)_(90196161_?)del
NC_000015.9:g.(?_90195814)_(90196161_?)del
NM_198525.3(KIF7):c.1108_1114dup (p.Ala372fs)
NM_198525.3(KIF7):c.1212_1222del (p.Leu405fs) rs1391614221
NM_198525.3(KIF7):c.1248del (p.Asp417fs) rs1253153154
NM_198525.3(KIF7):c.1269dup (p.Arg424fs)
NM_198525.3(KIF7):c.1329G>A (p.Trp443Ter)
NM_198525.3(KIF7):c.1404_1411del (p.Val469fs) rs1345505035
NM_198525.3(KIF7):c.1462C>T (p.Gln488Ter)
NM_198525.3(KIF7):c.1546C>T (p.Gln516Ter) rs1250146203
NM_198525.3(KIF7):c.1643dup (p.Arg549fs) rs1555424684
NM_198525.3(KIF7):c.1702dup (p.Leu568fs) rs772716663
NM_198525.3(KIF7):c.1823del (p.Leu608fs)
NM_198525.3(KIF7):c.2059C>T (p.Arg687Ter) rs138736028
NM_198525.3(KIF7):c.2164G>T (p.Glu722Ter) rs1555424505
NM_198525.3(KIF7):c.217del (p.Ala73fs) rs797044465
NM_198525.3(KIF7):c.2227C>T (p.Gln743Ter)
NM_198525.3(KIF7):c.2287C>T (p.Gln763Ter)
NM_198525.3(KIF7):c.2446C>T (p.Gln816Ter)
NM_198525.3(KIF7):c.2497C>T (p.Gln833Ter)
NM_198525.3(KIF7):c.2560_2570del (p.Ala854fs) rs762662896
NM_198525.3(KIF7):c.2770C>T (p.Gln924Ter)
NM_198525.3(KIF7):c.283C>T (p.Gln95Ter) rs771463286
NM_198525.3(KIF7):c.2917C>T (p.Arg973Ter) rs202229910
NM_198525.3(KIF7):c.3001C>T (p.Gln1001Ter) rs387907045
NM_198525.3(KIF7):c.3248dup (p.Asn1083fs) rs1236798408
NM_198525.3(KIF7):c.3281C>G (p.Ser1094Ter) rs1555423165
NM_198525.3(KIF7):c.3312dup (p.Asp1105Ter)
NM_198525.3(KIF7):c.350_353dup (p.Ile119fs)
NM_198525.3(KIF7):c.447C>A (p.Tyr149Ter)
NM_198525.3(KIF7):c.687del (p.Arg230fs) rs797044464
NM_198525.3(KIF7):c.716_720dup (p.Gly241fs) rs1567067864
NM_198525.3(KIF7):c.811del (p.Glu271fs) rs797044466
NM_198525.3(KIF7):c.877dup (p.Gln293fs)
NM_198525.3(KIF7):c.895del (p.Ile299fs)

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