ClinVar Miner

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

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Total variants: 40
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HGVS dbSNP
NM_004321.7(KIF1A):c.1394+9C>T rs372601809
NM_004321.7(KIF1A):c.1476A>G (p.Pro492=) rs35663732
NM_004321.7(KIF1A):c.183+7C>T rs74469870
NM_004321.7(KIF1A):c.184-10C>T rs7594776
NM_004321.7(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_004321.7(KIF1A):c.2208C>T (p.Ala736=) rs35945835
NM_004321.7(KIF1A):c.231C>T (p.Ile77=) rs530669240
NM_004321.7(KIF1A):c.234C>T (p.Gly78=) rs61744930
NM_004321.7(KIF1A):c.2358C>T (p.Ala786=) rs62637652
NM_004321.7(KIF1A):c.2418-8C>T rs200705912
NM_004321.7(KIF1A):c.2448C>T (p.Tyr816=) rs199996308
NM_004321.7(KIF1A):c.2555+7G>A rs781439626
NM_004321.7(KIF1A):c.258T>C (p.Phe86=) rs183284555
NM_004321.7(KIF1A):c.2595C>G (p.Pro865=) rs140783695
NM_004321.7(KIF1A):c.2655G>C (p.Val885=) rs186881889
NM_004321.7(KIF1A):c.2676C>T (p.Ala892=) rs116297894
NM_004321.7(KIF1A):c.2769C>G (p.Ser923=) rs73102625
NM_004321.7(KIF1A):c.2829C>A (p.Ile943=) rs373045276
NM_004321.7(KIF1A):c.2899+10C>A rs190997558
NM_004321.7(KIF1A):c.2910A>C (p.Pro970=) rs201232478
NM_004321.7(KIF1A):c.2956C>T (p.Pro986Ser) rs143037290
NM_004321.7(KIF1A):c.2979C>T (p.His993=) rs35664935
NM_004321.7(KIF1A):c.3042C>G (p.Ala1014=) rs370286749
NM_004321.7(KIF1A):c.3369G>A (p.Arg1123=) rs371024769
NM_004321.7(KIF1A):c.3378G>A (p.Pro1126=) rs370913170
NM_004321.7(KIF1A):c.3513+9C>T rs527731125
NM_004321.7(KIF1A):c.3549T>C (p.His1183=) rs184931664
NM_004321.7(KIF1A):c.3585C>T (p.Arg1195=) rs144520412
NM_004321.7(KIF1A):c.3840G>A (p.Pro1280=) rs2241683
NM_004321.7(KIF1A):c.393C>T (p.Asn131=) rs35139906
NM_004321.7(KIF1A):c.4016-8C>T rs1529663
NM_004321.7(KIF1A):c.405C>T (p.Asn135=) rs151212200
NM_004321.7(KIF1A):c.4071C>T (p.Gly1357=) rs375309925
NM_004321.7(KIF1A):c.423C>T (p.Ser141=) rs565992344
NM_004321.7(KIF1A):c.4509C>A (p.Thr1503=) rs76974316
NM_004321.7(KIF1A):c.4586G>A (p.Arg1529Gln) rs191428830
NM_004321.7(KIF1A):c.4614G>A (p.Leu1538=) rs187810230
NM_004321.7(KIF1A):c.4722G>A (p.Pro1574=) rs148176695
NM_004321.7(KIF1A):c.849C>T (p.Ser283=) rs187442951
Single allele

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