ClinVar Miner

List of variants in gene KIF1A reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001244008.2(KIF1A):c.4612C>T (p.Arg1538Cys) rs200184619 0.00150
NM_001244008.2(KIF1A):c.2117-20C>T rs200852469 0.00083
NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=) rs371737085 0.00061
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=) rs200149062 0.00045
NM_001244008.2(KIF1A):c.2813G>A (p.Arg938Gln) rs192102667 0.00038
NM_001244008.2(KIF1A):c.1437C>T (p.Ala479=) rs375180690 0.00032
NM_001244008.2(KIF1A):c.3202+8G>A rs371620074 0.00018
NM_001244008.2(KIF1A):c.3247G>A (p.Ala1083Thr) rs201793635 0.00016
NM_001244008.2(KIF1A):c.1221G>A (p.Leu407=) rs201242759 0.00012
NM_001244008.2(KIF1A):c.654C>T (p.His218=) rs751380608 0.00006
NM_001244008.2(KIF1A):c.609-8C>T rs775915390 0.00005
NM_001244008.2(KIF1A):c.4744-4G>A rs771679601 0.00004
NM_001244008.2(KIF1A):c.4176C>T (p.Phe1392=) rs754203456 0.00003
NM_001244008.2(KIF1A):c.1577+7G>A rs781749303 0.00002
NM_001244008.2(KIF1A):c.1038-4C>G
NM_001244008.2(KIF1A):c.1208-43C>T
NM_001244008.2(KIF1A):c.183+16G>C
NM_001244008.2(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_001244008.2(KIF1A):c.882+6C>G rs1290737564

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