ClinVar Miner

List of variants in gene KIF1A reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr) rs35698242 0.00063
NM_001244008.2(KIF1A):c.4778C>T (p.Pro1593Leu) rs200902828 0.00037
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn) rs200141437 0.00026
NM_001244008.2(KIF1A):c.4985G>A (p.Arg1662His) rs199557318 0.00026
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val) rs199804623 0.00026
NM_001244008.2(KIF1A):c.4771C>T (p.Arg1591Trp) rs201139273 0.00016
NM_001244008.2(KIF1A):c.4498G>C (p.Glu1500Gln) rs376432305 0.00011
NM_001244008.2(KIF1A):c.137C>T (p.Thr46Met) rs182395595 0.00007
NM_001244008.2(KIF1A):c.1847C>T (p.Thr616Met) rs370071963 0.00006
NM_001244008.2(KIF1A):c.3674C>G (p.Pro1225Arg) rs377389267 0.00006
NM_001244008.2(KIF1A):c.883-3C>T rs111507743 0.00006
NM_001244008.2(KIF1A):c.2494C>T (p.Pro832Ser) rs757726053 0.00005
NM_001244008.2(KIF1A):c.3928G>A (p.Asp1310Asn) rs371252476 0.00005
NM_001244008.2(KIF1A):c.4666-5C>T rs532806732 0.00005
NM_001244008.2(KIF1A):c.5063C>T (p.Pro1688Leu) rs549560429 0.00005
NM_001244008.2(KIF1A):c.5131G>A (p.Asp1711Asn) rs199574770 0.00005
NM_001244008.2(KIF1A):c.1651G>A (p.Val551Ile) rs373891682 0.00004
NM_001244008.2(KIF1A):c.1862C>T (p.Thr621Met) rs760338913 0.00004
NM_001244008.2(KIF1A):c.2672C>T (p.Ser891Leu) rs778041447 0.00004
NM_001244008.2(KIF1A):c.4520G>A (p.Arg1507Gln) rs750045020 0.00004
NM_001244008.2(KIF1A):c.1064G>A (p.Arg355His) rs373042822 0.00003
NM_001244008.2(KIF1A):c.420C>T (p.Tyr140=) rs1300729090 0.00003
NM_001244008.2(KIF1A):c.3465+4C>T rs879064869 0.00002
NM_001244008.2(KIF1A):c.4660G>A (p.Val1554Ile) rs567408550 0.00002
NM_001244008.2(KIF1A):c.4834C>T (p.Leu1612=) rs772100288 0.00002
NM_001244008.2(KIF1A):c.502G>A (p.Val168Met) rs1057519241 0.00002
NM_001244008.2(KIF1A):c.1063C>T (p.Arg355Cys) rs1225233710 0.00001
NM_001244008.2(KIF1A):c.1670G>T (p.Arg557Met) rs773904723 0.00001
NM_001244008.2(KIF1A):c.2371C>T (p.Arg791Cys) rs768035823 0.00001
NM_001244008.2(KIF1A):c.2479C>T (p.Arg827Cys) rs376012799 0.00001
NM_001244008.2(KIF1A):c.2953C>T (p.Arg985Cys) rs760325615 0.00001
NM_001244008.2(KIF1A):c.3594G>T (p.Arg1198Ser) rs1411100549 0.00001
NM_001244008.2(KIF1A):c.3616C>T (p.Arg1206Trp) rs772443183 0.00001
NM_001244008.2(KIF1A):c.3950A>G (p.Asn1317Ser) rs374267267 0.00001
NM_001244008.2(KIF1A):c.4496G>A (p.Arg1499Gln) rs866211603 0.00001
NM_001244008.2(KIF1A):c.4544C>T (p.Pro1515Leu) rs867230401 0.00001
NM_001244008.2(KIF1A):c.5027T>C (p.Ile1676Thr) rs372664825 0.00001
NM_001244008.2(KIF1A):c.878A>G (p.Asn293Ser) rs747127041 0.00001
NM_001244008.2(KIF1A):c.1064G>T (p.Arg355Leu) rs373042822
NM_001244008.2(KIF1A):c.110T>C (p.Ile37Thr) rs2055352103
NM_001244008.2(KIF1A):c.1412G>A (p.Arg471Gln) rs754302454
NM_001244008.2(KIF1A):c.1769G>A (p.Gly590Glu) rs1419828815
NM_001244008.2(KIF1A):c.1976G>A (p.Arg659His)
NM_001244008.2(KIF1A):c.2077C>A (p.Pro693Thr)
NM_001244008.2(KIF1A):c.2493G>T (p.Val831=) rs201861261
NM_001244008.2(KIF1A):c.2662C>T (p.Pro888Ser)
NM_001244008.2(KIF1A):c.2678C>T (p.Pro893Leu)
NM_001244008.2(KIF1A):c.2688C>T (p.Asp896=) rs1553632633
NM_001244008.2(KIF1A):c.3310C>T (p.Arg1104Cys) rs986710765
NM_001244008.2(KIF1A):c.3698A>G (p.Lys1233Arg) rs1553629083
NM_001244008.2(KIF1A):c.3905G>C (p.Arg1302Pro) rs376697478
NM_001244008.2(KIF1A):c.3931G>A (p.Glu1311Lys) rs778239281
NM_001244008.2(KIF1A):c.4208G>A (p.Arg1403His) rs537708830
NM_001244008.2(KIF1A):c.4219A>G (p.Asn1407Asp) rs2045888587
NM_001244008.2(KIF1A):c.4236G>T (p.Gly1412=) rs1398284516
NM_001244008.2(KIF1A):c.4257-6C>T rs1440735433
NM_001244008.2(KIF1A):c.4340G>A (p.Arg1447Gln) rs1294960500
NM_001244008.2(KIF1A):c.4672C>T (p.Arg1558Cys)
NM_001244008.2(KIF1A):c.4754T>A (p.Met1585Lys) rs2125586001
NM_001244008.2(KIF1A):c.5334-1_5338dup
NM_001244008.2(KIF1A):c.575T>C (p.Ile192Thr) rs2126071169
NM_001244008.2(KIF1A):c.831C>T (p.Thr277=) rs1575624578
NM_001244008.2(KIF1A):c.893AGA[2] (p.Lys300del) rs751165127
NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln) rs749718096

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