ClinVar Miner

List of variants in gene KIF1A reported by SIB Swiss Institute of Bioinformatics

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001244008.2(KIF1A):c.1048C>T (p.Arg350Trp) rs387907259 0.00001
NM_001244008.2(KIF1A):c.1138C>T (p.Arg380Trp) rs545501989 0.00001
NM_001244008.2(KIF1A):c.499C>T (p.Arg167Cys) rs672601365 0.00001
NM_001244008.2(KIF1A):c.1048C>G (p.Arg350Gly) rs387907259
NM_001244008.2(KIF1A):c.1406C>G (p.Ala469Gly) rs2051688642
NM_001244008.2(KIF1A):c.167A>G (p.Tyr56Cys) rs2055347610
NM_001244008.2(KIF1A):c.1894C>T (p.Gln632Ter) rs2050749062
NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu) rs786200949
NM_001244008.2(KIF1A):c.221A>G (p.Tyr74Cys) rs2055191530
NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser) rs1057518760
NM_001244008.2(KIF1A):c.2554C>T (p.Arg852Cys) rs1174253803
NM_001244008.2(KIF1A):c.2880C>A (p.Asn960Lys) rs2049088933
NM_001244008.2(KIF1A):c.304G>A (p.Gly102Ser) rs1064795534
NM_001244008.2(KIF1A):c.305G>A (p.Gly102Asp) rs672601363
NM_001244008.2(KIF1A):c.317C>A (p.Thr106Asn) rs2055181124
NM_001244008.2(KIF1A):c.31C>T (p.Arg11Trp) rs548204329
NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln) rs1575654528
NM_001244008.2(KIF1A):c.3380T>C (p.Ile1127Thr) rs1559495436
NM_001244008.2(KIF1A):c.4278C>G (p.Tyr1426Ter) rs572662012
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.500G>A (p.Arg167His) rs2054757914
NM_001244008.2(KIF1A):c.518T>C (p.Leu173Pro) rs2054755647
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.647G>A (p.Arg216His) rs672601368
NM_001244008.2(KIF1A):c.647G>C (p.Arg216Pro) rs672601368
NM_001244008.2(KIF1A):c.746T>A (p.Leu249Gln) rs672601371
NM_001244008.2(KIF1A):c.756C>G (p.Ser252Arg) rs555641774
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met) rs1553638086
NM_001244008.2(KIF1A):c.89T>C (p.Met30Thr) rs2056552194
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.967T>C (p.Ser323Pro) rs2052422975

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