ClinVar Miner

List of variants in gene KIF1A reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_001244008.2(KIF1A):c.4319-8C>T rs1529663 0.04602
NM_001244008.2(KIF1A):c.234C>T (p.Gly78=) rs61744930 0.03600
NM_001244008.2(KIF1A):c.1503A>G (p.Pro501=) rs35663732 0.01790
NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=) rs116297894 0.01425
NM_001244008.2(KIF1A):c.2385C>T (p.Ala795=) rs62637652 0.00997
NM_001244008.2(KIF1A):c.184-10C>T rs7594776 0.00865
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val) rs141441058 0.00470
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) rs143037290 0.00369
NM_001244008.2(KIF1A):c.3202+10C>A rs190997558 0.00326
NM_001244008.2(KIF1A):c.183+7C>T rs74469870 0.00324
NM_001244008.2(KIF1A):c.4917G>A (p.Leu1639=) rs187810230 0.00252
NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln) rs191428830 0.00228
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=) rs370286749 0.00214
NM_001244008.2(KIF1A):c.2958G>C (p.Val986=) rs186881889 0.00175
NM_001244008.2(KIF1A):c.2445-8C>T rs200705912 0.00145
NM_001244008.2(KIF1A):c.3246C>T (p.Ala1082=) rs368682964 0.00104
NM_001244008.2(KIF1A):c.4875G>A (p.Pro1625=) rs201418175 0.00099
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr) rs35698242 0.00063
NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=) rs371737085 0.00061
NM_001244008.2(KIF1A):c.618G>A (p.Ala206=) rs137913879 0.00059
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.3468C>T (p.Ile1156=) rs201981364 0.00034
NM_001244008.2(KIF1A):c.1437C>T (p.Ala479=) rs375180690 0.00032
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn) rs200141437 0.00026
NM_001244008.2(KIF1A):c.4744-5C>T rs117815481 0.00024
NM_001244008.2(KIF1A):c.2475C>T (p.Tyr825=) rs199996308 0.00021
NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met) rs374873057 0.00021
NM_001244008.2(KIF1A):c.4998T>C (p.Pro1666=) rs201119646 0.00021
NM_001244008.2(KIF1A):c.882+8G>A rs376552408 0.00019
NM_001244008.2(KIF1A):c.4206G>A (p.Ser1402=) rs201656750 0.00017
NM_001244008.2(KIF1A):c.3680C>T (p.Pro1227Leu) rs374244985 0.00015
NM_001244008.2(KIF1A):c.1181-6C>G rs535005700 0.00011
NM_001244008.2(KIF1A):c.5332C>T (p.Arg1778Trp) rs765668490 0.00009
NM_001244008.2(KIF1A):c.3599C>T (p.Ser1200Leu) rs763750448 0.00008
NM_001244008.2(KIF1A):c.5070G>A (p.Thr1690=) rs201733233 0.00008
NM_001244008.2(KIF1A):c.2088C>T (p.Asn696=) rs758111969 0.00006
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln) rs376658420 0.00006
NM_001244008.2(KIF1A):c.531C>T (p.Tyr177=) rs374244360 0.00006
NM_001244008.2(KIF1A):c.1597G>A (p.Glu533Lys) rs764182180 0.00003
NM_001244008.2(KIF1A):c.2481C>T (p.Arg827=) rs371444142 0.00002
NM_001244008.2(KIF1A):c.2680G>A (p.Asp894Asn) rs1064796756 0.00002
NM_001244008.2(KIF1A):c.4007+7C>T rs555842583 0.00002
NM_001244008.2(KIF1A):c.5015G>A (p.Arg1672Gln) rs761974755 0.00002
NM_001244008.2(KIF1A):c.3296A>G (p.Asn1099Ser) rs1288885072 0.00001
NM_001244008.2(KIF1A):c.3375C>T (p.Asn1125=) rs1380599495 0.00001
NM_001244008.2(KIF1A):c.4555G>A (p.Glu1519Lys) rs769965899 0.00001
NM_001244008.2(KIF1A):c.4813C>T (p.Pro1605Ser) rs916993059 0.00001
NM_001244008.2(KIF1A):c.4908C>T (p.Pro1636=) rs759393763 0.00001
NM_001244008.2(KIF1A):c.799-4G>A rs759945798 0.00001
NM_001244008.2(KIF1A):c.1022C>T (p.Thr341Ile)
NM_001244008.2(KIF1A):c.1768+4T>C rs780489790
NM_001244008.2(KIF1A):c.1898G>A (p.Arg633His) rs1553633823
NM_001244008.2(KIF1A):c.1A>G (p.Met1Val) rs1559538947
NM_001244008.2(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_001244008.2(KIF1A):c.220T>A (p.Tyr74Asn) rs2126092196
NM_001244008.2(KIF1A):c.2694C>G (p.Thr898=) rs555856342
NM_001244008.2(KIF1A):c.2721GGA[10] (p.Glu917del) rs10594016
NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup) rs10594016
NM_001244008.2(KIF1A):c.2748G>T (p.Glu916Asp)
NM_001244008.2(KIF1A):c.2750_2751insTGAGGAGGAGGA (p.Glu916_Glu917insAspGluGluGlu) rs878988727
NM_001244008.2(KIF1A):c.3221T>G (p.Leu1074Arg)
NM_001244008.2(KIF1A):c.3223C>T (p.Leu1075Phe)
NM_001244008.2(KIF1A):c.3263T>C (p.Leu1088Pro)
NM_001244008.2(KIF1A):c.4694A>G (p.Asn1565Ser) rs755380517
NM_001244008.2(KIF1A):c.5350AGG[1] (p.Arg1785del) rs760590728

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