ClinVar Miner

List of variants in gene KIF1A studied for Intellectual disability, autosomal dominant 9

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Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_001244008.2(KIF1A):c.3641-8C>T rs56024577 0.22160
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val) rs141441058 0.00470
NM_001244008.2(KIF1A):c.1208-40G>A rs375833834 0.00073
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn) rs200141437 0.00026
NM_001244008.2(KIF1A):c.3234C>A (p.Ser1078Arg) rs553976598 0.00019
NM_001244008.2(KIF1A):c.2132G>A (p.Arg711Gln) rs774604596 0.00014
NM_001244008.2(KIF1A):c.4511C>T (p.Thr1504Ile) rs371831198 0.00009
NM_001244008.2(KIF1A):c.4665+4G>C rs772449700 0.00007
NM_001244008.2(KIF1A):c.4909G>A (p.Glu1637Lys) rs377032453 0.00006
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp) rs778224699 0.00004
NM_001244008.2(KIF1A):c.2812C>T (p.Arg938Trp) rs375371570 0.00004
NM_001244008.2(KIF1A):c.4975G>A (p.Glu1659Lys) rs764970503 0.00004
NM_001244008.2(KIF1A):c.850G>A (p.Ala284Thr) rs756136593 0.00004
NM_001244008.2(KIF1A):c.2798C>T (p.Ala933Val) rs760841799 0.00003
NM_001244008.2(KIF1A):c.3979G>A (p.Gly1327Arg) rs879253904 0.00002
NM_001244008.2(KIF1A):c.482A>T (p.Lys161Met) rs1011045689 0.00002
NM_001244008.2(KIF1A):c.1138C>T (p.Arg380Trp) rs545501989 0.00001
NM_001244008.2(KIF1A):c.1267G>A (p.Ala423Thr) rs1345536541 0.00001
NM_001244008.2(KIF1A):c.2570G>A (p.Arg857Gln) rs1195594601 0.00001
NM_001244008.2(KIF1A):c.3287G>A (p.Arg1096His) rs780970120 0.00001
NM_001244008.2(KIF1A):c.3616C>T (p.Arg1206Trp) rs772443183 0.00001
NM_001244008.2(KIF1A):c.4046T>C (p.Met1349Thr) rs1045777400 0.00001
NM_001244008.2(KIF1A):c.4217G>A (p.Arg1406His) rs755301795 0.00001
NM_001244008.2(KIF1A):c.499C>T (p.Arg167Cys) rs672601365 0.00001
NM_001244008.2(KIF1A):c.5216C>T (p.Thr1739Ile) rs371267255 0.00001
NM_001244008.2(KIF1A):c.1031C>T (p.Thr344Met) rs2125976585
NM_001244008.2(KIF1A):c.1132C>T (p.Arg378Trp) rs1438039466
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_001244008.2(KIF1A):c.179C>A (p.Thr60Asn) rs2126098516
NM_001244008.2(KIF1A):c.182C>T (p.Ser61Leu) rs2126098498
NM_001244008.2(KIF1A):c.1898G>A (p.Arg633His) rs1553633823
NM_001244008.2(KIF1A):c.194T>C (p.Ile65Thr) rs2055194876
NM_001244008.2(KIF1A):c.2022+3G>A rs566702367
NM_001244008.2(KIF1A):c.2213A>G (p.Asn738Ser) rs1559506707
NM_001244008.2(KIF1A):c.2347G>C (p.Asp783His) rs1441080561
NM_001244008.2(KIF1A):c.2380G>A (p.Val794Met) rs2050404791
NM_001244008.2(KIF1A):c.2445-3del
NM_001244008.2(KIF1A):c.2464C>T (p.Arg822Trp) rs1328033713
NM_001244008.2(KIF1A):c.265T>G (p.Tyr89Asp) rs869312711
NM_001244008.2(KIF1A):c.278_307del (p.Ile93_Gly102del)
NM_001244008.2(KIF1A):c.2830C>T (p.Arg944Trp)
NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met) rs387906799
NM_001244008.2(KIF1A):c.2978-14T>G rs964376899
NM_001244008.2(KIF1A):c.305G>A (p.Gly102Asp) rs672601363
NM_001244008.2(KIF1A):c.3073del (p.Glu1025fs) rs2125794023
NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln) rs1575654528
NM_001244008.2(KIF1A):c.3744C>G (p.Asn1248Lys) rs771357052
NM_001244008.2(KIF1A):c.377T>C (p.Leu126Pro) rs2055064647
NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys) rs1064794935
NM_001244008.2(KIF1A):c.40C>A (p.Pro14Thr) rs2056558371
NM_001244008.2(KIF1A):c.4255A>G (p.Ser1419Gly) rs1388325896
NM_001244008.2(KIF1A):c.430G>T (p.Val144Phe) rs672601364
NM_001244008.2(KIF1A):c.444G>T (p.Glu148Asp) rs2054763570
NM_001244008.2(KIF1A):c.452G>A (p.Cys151Tyr) rs1553638655
NM_001244008.2(KIF1A):c.4554C>G (p.Ser1518Arg) rs775395101
NM_001244008.2(KIF1A):c.4688C>T (p.Thr1563Ile) rs1240646245
NM_001244008.2(KIF1A):c.4753A>T (p.Met1585Leu) rs1203273192
NM_001244008.2(KIF1A):c.4805C>G (p.Thr1602Ser) rs1232607807
NM_001244008.2(KIF1A):c.506G>C (p.Arg169Thr) rs876661168
NM_001244008.2(KIF1A):c.5214+3G>A rs1394328434
NM_001244008.2(KIF1A):c.5350AGG[1] (p.Arg1785del) rs760590728
NM_001244008.2(KIF1A):c.556G>T (p.Val186Phe) rs2054752278
NM_001244008.2(KIF1A):c.595G>A (p.Gly199Arg) rs1553638614
NM_001244008.2(KIF1A):c.604G>C (p.Ala202Pro) rs672601366
NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg) rs672601367
NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys) rs797045164
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His) rs672601368
NM_001244008.2(KIF1A):c.647G>C (p.Arg216Pro) rs672601368
NM_001244008.2(KIF1A):c.650C>T (p.Ser217Phe) rs876661202
NM_001244008.2(KIF1A):c.652C>T (p.His218Tyr) rs2054549834
NM_001244008.2(KIF1A):c.706A>G (p.Ile236Val) rs2126062292
NM_001244008.2(KIF1A):c.746T>A (p.Leu249Gln) rs672601371
NM_001244008.2(KIF1A):c.752G>A (p.Gly251Glu)
NM_001244008.2(KIF1A):c.757G>A (p.Glu253Lys) rs672601369
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met) rs1553638086
NM_001244008.2(KIF1A):c.798+1G>C
NM_001244008.2(KIF1A):c.812T>G (p.Ile271Ser) rs2126049991
NM_001244008.2(KIF1A):c.812_817del (p.Ile271_Asn272del)
NM_001244008.2(KIF1A):c.813CAA[1] (p.Asn272del) rs2054280202
NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu) rs797045655
NM_001244008.2(KIF1A):c.833T>C (p.Leu278Pro) rs1131692159
NM_001244008.2(KIF1A):c.839A>G (p.Lys280Arg) rs2054277617
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_001244008.2(KIF1A):c.919C>G (p.Arg307Gly) rs369692236
NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln) rs1064793161
NM_001244008.2(KIF1A):c.920G>C (p.Arg307Pro) rs1064793161
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_001244008.2(KIF1A):c.967T>C (p.Ser323Pro) rs2052422975
NM_004321.8(KIF1A):c.935C>A (p.Thr312Asn) rs779049732

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