ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349 0.90740
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531 0.85312
NM_198525.3(KIF7):c.1788+13T>C rs1110060 0.59982
NM_198525.3(KIF7):c.3112-11_3112-10insCT rs35820949 0.57089
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286 0.53592
NM_198525.3(KIF7):c.2896-14G>A rs9672296 0.53577
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) rs12900805 0.52523
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530 0.52464
NM_198525.3(KIF7):c.*344T>C rs1054435 0.41372
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn) rs8179065 0.20556
NM_198525.3(KIF7):c.2043T>A (p.Val681=) rs72750755 0.02861
NM_198525.3(KIF7):c.1444-4A>G rs112333674 0.02204
NM_198525.3(KIF7):c.216G>A (p.Gln72=) rs113881220 0.02077
NM_198525.3(KIF7):c.*139C>T rs8037511 0.01904
NM_198525.3(KIF7):c.2481C>T (p.Asn827=) rs35837280 0.01186
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu) rs115857753 0.01168
NM_198525.3(KIF7):c.2271C>T (p.Ala757=) rs35451920 0.00897
NM_198525.3(KIF7):c.1189G>A (p.Ala397Thr) rs535621809 0.00887
NM_198525.3(KIF7):c.3012C>T (p.Arg1004=) rs61741227 0.00828
NM_198525.3(KIF7):c.-52G>T rs116805116 0.00808
NM_198525.3(KIF7):c.3999G>C (p.Pro1333=) rs137993810 0.00730
NM_198525.3(KIF7):c.1266C>G (p.Leu422=) rs8030837 0.00552
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) rs149814240 0.00533
NM_198525.3(KIF7):c.294A>G (p.Ser98=) rs145049849 0.00465
NM_198525.3(KIF7):c.49C>T (p.Arg17Trp) rs141865394 0.00423
NM_198525.3(KIF7):c.2501A>G (p.Gln834Arg) rs138354681 0.00308
NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr) rs527804875 0.00307
NM_198525.3(KIF7):c.2192-13C>T rs201251064 0.00262
NM_198525.3(KIF7):c.3111+9C>A rs147996726 0.00261
NM_198525.3(KIF7):c.2335G>C (p.Glu779Gln) rs116823950 0.00229
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) rs138410949 0.00203
NM_198525.3(KIF7):c.2718+19C>T rs200126841 0.00152
NM_198525.3(KIF7):c.3738C>G (p.Pro1246=) rs144929293 0.00121
NM_198525.3(KIF7):c.2718+20G>A rs183149392 0.00108
NM_198525.3(KIF7):c.516G>A (p.Glu172=) rs199959946 0.00032
NM_198525.3(KIF7):c.3202C>T (p.Arg1068Trp) rs147191956 0.00026
NM_198525.3(KIF7):c.3964T>C (p.Ser1322Pro) rs200891085 0.00016
NM_198525.3(KIF7):c.3252C>T (p.Leu1084=) rs77896636 0.00014
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys) rs553968087 0.00007
NM_198525.3(KIF7):c.530-7C>T rs202043641 0.00006
NM_198525.3(KIF7):c.2074C>G (p.Gln692Glu) rs565633539 0.00001
NM_198525.3(KIF7):c.1221C>T (p.Ala407=) rs886051535
NM_198525.3(KIF7):c.1789-7C>T rs544015325
NM_198525.3(KIF7):c.195G>C (p.Ala65=) rs8179066
NM_198525.3(KIF7):c.2592+11C>A rs78199895
NM_198525.3(KIF7):c.2592+11C>T rs78199895
NM_198525.3(KIF7):c.2896-3del
NM_198525.3(KIF7):c.710G>T (p.Arg237Leu) rs529571444
NM_198525.3(KIF7):c.923+13dup

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