ClinVar Miner

List of variants in gene KIF1A reported as likely benign for Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9

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Gene type:
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Total variants: 86
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HGVS dbSNP
NM_004321.7(KIF1A):c.1011C>T (p.Asn337=) rs1485121388
NM_004321.7(KIF1A):c.1110C>A (p.Arg370=) rs369641508
NM_004321.7(KIF1A):c.1110C>T (p.Arg370=) rs369641508
NM_004321.7(KIF1A):c.1180+9C>T rs1553635490
NM_004321.7(KIF1A):c.1302T>C (p.Ile434=) rs761314693
NM_004321.7(KIF1A):c.1314+7G>T rs184947396
NM_004321.7(KIF1A):c.1394+10G>A rs191716550
NM_004321.7(KIF1A):c.1395-4C>T rs1232884429
NM_004321.7(KIF1A):c.1410C>T (p.Ala470=) rs375180690
NM_004321.7(KIF1A):c.1551-4G>A rs376897164
NM_004321.7(KIF1A):c.1572G>A (p.Glu524=) rs758558877
NM_004321.7(KIF1A):c.1599G>A (p.Gly533=) rs1300873600
NM_004321.7(KIF1A):c.1653C>T (p.Ser551=) rs371260268
NM_004321.7(KIF1A):c.1836G>A (p.Thr612=) rs772785242
NM_004321.7(KIF1A):c.1962G>A (p.Glu654=) rs1371005890
NM_004321.7(KIF1A):c.1995+9C>T rs751175706
NM_004321.7(KIF1A):c.2022G>A (p.Leu674=) rs373116562
NM_004321.7(KIF1A):c.2043G>A (p.Arg681=) rs749762798
NM_004321.7(KIF1A):c.2061C>T (p.Asn687=) rs758111969
NM_004321.7(KIF1A):c.2073G>A (p.Glu691=) rs374701055
NM_004321.7(KIF1A):c.2160G>A (p.Thr720=) rs371859121
NM_004321.7(KIF1A):c.2239-9C>T rs1333121682
NM_004321.7(KIF1A):c.2376G>A (p.Gln792=) rs770666285
NM_004321.7(KIF1A):c.2466G>T (p.Val822=) rs201861261
NM_004321.7(KIF1A):c.2782G>A (p.Val928Met) rs183359489
NM_004321.7(KIF1A):c.27G>A (p.Ala9=) rs753090169
NM_004321.7(KIF1A):c.282C>T (p.Phe94=) rs761915393
NM_004321.7(KIF1A):c.2835G>A (p.Glu945=) rs1553630555
NM_004321.7(KIF1A):c.2899+7C>T rs781712580
NM_004321.7(KIF1A):c.2943C>T (p.Ala981=) rs368682964
NM_004321.7(KIF1A):c.2944G>A (p.Ala982Thr) rs201793635
NM_004321.7(KIF1A):c.3018C>A (p.Val1006=) rs758210408
NM_004321.7(KIF1A):c.3027G>A (p.Ala1009=) rs200149062
NM_004321.7(KIF1A):c.3102C>T (p.Ser1034=) rs374858877
NM_004321.7(KIF1A):c.3165C>T (p.Ile1055=) rs201981364
NM_004321.7(KIF1A):c.3279C>G (p.Leu1093=) rs185587291
NM_004321.7(KIF1A):c.327C>A (p.Gly109=) rs776064107
NM_004321.7(KIF1A):c.3281+7G>A rs768577501
NM_004321.7(KIF1A):c.3297G>A (p.Ser1099=) rs762545111
NM_004321.7(KIF1A):c.3365C>T (p.Thr1122Met) rs374873057
NM_004321.7(KIF1A):c.3366G>A (p.Thr1122=) rs371491091
NM_004321.7(KIF1A):c.3390C>T (p.His1130=) rs375829173
NM_004321.7(KIF1A):c.3441C>T (p.Asn1147=) rs771357052
NM_004321.7(KIF1A):c.3444C>G (p.Gly1148=) rs1347922421
NM_004321.7(KIF1A):c.3462G>T (p.Val1154=) rs765454599
NM_004321.7(KIF1A):c.363+9C>T rs368803931
NM_004321.7(KIF1A):c.3639C>A (p.Ile1213=) rs201423643
NM_004321.7(KIF1A):c.3704+8G>A rs374380397
NM_004321.7(KIF1A):c.3820-9C>T rs1481047493
NM_004321.7(KIF1A):c.3903G>A (p.Ser1301=) rs201656750
NM_004321.7(KIF1A):c.3975C>T (p.Tyr1325=) rs572662012
NM_004321.7(KIF1A):c.4005G>A (p.Ala1335=) rs370868080
NM_004321.7(KIF1A):c.4162-10C>T rs750461872
NM_004321.7(KIF1A):c.417C>T (p.Ser139=) rs763629643
NM_004321.7(KIF1A):c.4206G>A (p.Glu1402=) rs1229202517
NM_004321.7(KIF1A):c.4272C>T (p.Gly1424=) rs1553625168
NM_004321.7(KIF1A):c.4278C>T (p.Ser1426=) rs373703367
NM_004321.7(KIF1A):c.4293G>A (p.Pro1431=) rs952512510
NM_004321.7(KIF1A):c.4301C>T (p.Ala1434Val) rs141441058
NM_004321.7(KIF1A):c.4309C>T (p.Arg1437Cys) rs200184619
NM_004321.7(KIF1A):c.4356C>T (p.Ala1452=) rs1269754231
NM_004321.7(KIF1A):c.4419C>T (p.Cys1473=) rs373532949
NM_004321.7(KIF1A):c.4431C>T (p.Ser1477=) rs766419471
NM_004321.7(KIF1A):c.4441-5C>T rs117815481
NM_004321.7(KIF1A):c.4446C>T (p.Ser1482=) rs371737085
NM_004321.7(KIF1A):c.4475C>T (p.Pro1492Leu) rs200902828
NM_004321.7(KIF1A):c.4506C>T (p.Leu1502=) rs75666979
NM_004321.7(KIF1A):c.4518C>T (p.Ser1506=) rs371014474
NM_004321.7(KIF1A):c.4548C>T (p.Tyr1516=) rs202049905
NM_004321.7(KIF1A):c.4561C>T (p.Leu1521=) rs1553624720
NM_004321.7(KIF1A):c.459C>T (p.Arg153=) rs201515208
NM_004321.7(KIF1A):c.4767G>A (p.Thr1589=) rs201733233
NM_004321.7(KIF1A):c.4852G>A (p.Val1618Met) rs200511467
NM_004321.7(KIF1A):c.4902T>G (p.Ala1634=) rs1553624254
NM_004321.7(KIF1A):c.4938G>A (p.Thr1646=) rs375709030
NM_004321.7(KIF1A):c.5030+8C>T rs377084915
NM_004321.7(KIF1A):c.5031-4G>A rs758806789
NM_004321.7(KIF1A):c.609-8C>T rs775915390
NM_004321.7(KIF1A):c.639C>T (p.Thr213=) rs375365975
NM_004321.7(KIF1A):c.693C>T (p.Asp231=) rs772411022
NM_004321.7(KIF1A):c.714G>A (p.Thr238=) rs201970806
NM_004321.7(KIF1A):c.786C>G (p.Gly262=) rs1290016793
NM_004321.7(KIF1A):c.804G>T (p.Gly268=) rs771502419
NM_004321.7(KIF1A):c.876C>T (p.Pro292=) rs902561000
NM_004321.7(KIF1A):c.882+8G>A rs376552408
NM_004321.7(KIF1A):c.883-5C>A rs201408083

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