ClinVar Miner

List of variants in gene KIF1A reported as likely pathogenic for Intellectual disability, autosomal dominant 9

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp) rs778224699 0.00004
NM_001244008.2(KIF1A):c.499C>T (p.Arg167Cys) rs672601365 0.00001
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_001244008.2(KIF1A):c.1898G>A (p.Arg633His) rs1553633823
NM_001244008.2(KIF1A):c.278_307del (p.Ile93_Gly102del)
NM_001244008.2(KIF1A):c.305G>A (p.Gly102Asp) rs672601363
NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln) rs1575654528
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.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.506G>C (p.Arg169Thr) rs876661168
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.647G>A (p.Arg216His) rs672601368
NM_001244008.2(KIF1A):c.647G>C (p.Arg216Pro) rs672601368
NM_001244008.2(KIF1A):c.652C>T (p.His218Tyr) rs2054549834
NM_001244008.2(KIF1A):c.746T>A (p.Leu249Gln) rs672601371
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_001244008.2(KIF1A):c.812T>G (p.Ile271Ser) rs2126049991
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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