ClinVar Miner

List of variants reported as likely pathogenic for Mental retardation, autosomal dominant 9

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Total variants: 17
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HGVS dbSNP
NM_004321.7(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_004321.7(KIF1A):c.1871G>A (p.Arg624His) rs1553633823
NM_004321.7(KIF1A):c.223C>T (p.Arg75Trp) rs778224699
NM_004321.7(KIF1A):c.2543G>A (p.Arg848Gln) rs1195594601
NM_004321.7(KIF1A):c.305G>A (p.Gly102Asp) rs672601363
NM_004321.7(KIF1A):c.430G>T (p.Val144Phe) rs672601364
NM_004321.7(KIF1A):c.499C>T (p.Arg167Cys) rs672601365
NM_004321.7(KIF1A):c.506G>C (p.Arg169Thr)
NM_004321.7(KIF1A):c.604G>C (p.Ala202Pro) rs672601366
NM_004321.7(KIF1A):c.643A>C (p.Ser215Arg) rs672601367
NM_004321.7(KIF1A):c.647G>C (p.Arg216Pro) rs672601368
NM_004321.7(KIF1A):c.746T>A (p.Leu249Gln) rs672601371
NM_004321.7(KIF1A):c.821C>T (p.Ser274Leu) rs797045655
NM_004321.7(KIF1A):c.833T>C (p.Leu278Pro) rs1131692159
NM_004321.7(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_004321.7(KIF1A):c.919C>G (p.Arg307Gly) rs369692236
NM_004321.7(KIF1A):c.946C>T (p.Arg316Trp) rs672601370

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