ClinVar Miner

List of variants in gene KIF1A reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001244008.2(KIF1A):c.3202+10C>A rs190997558 0.00326
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=) rs370286749 0.00214
NM_001244008.2(KIF1A):c.5043G>A (p.Gly1681=) rs143815273 0.00194
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met) rs183359489 0.00160
NM_001244008.2(KIF1A):c.3246C>T (p.Ala1082=) rs368682964 0.00104
NM_001244008.2(KIF1A):c.4781C>T (p.Ser1594Leu) rs201825284 0.00048
NM_001244008.2(KIF1A):c.4778C>T (p.Pro1593Leu) rs200902828 0.00037
NM_001244008.2(KIF1A):c.3468C>T (p.Ile1156=) rs201981364 0.00034
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.3202+8G>A rs371620074 0.00018
NM_001244008.2(KIF1A):c.2132G>A (p.Arg711Gln) rs774604596 0.00014
NM_001244008.2(KIF1A):c.1663G>A (p.Asp555Asn) rs375972461 0.00013
NM_001244008.2(KIF1A):c.4511C>T (p.Thr1504Ile) rs371831198 0.00009
NM_001244008.2(KIF1A):c.2341G>A (p.Ala781Thr) rs369842871 0.00007
NM_001244008.2(KIF1A):c.4665+4G>C rs772449700 0.00007
NM_001244008.2(KIF1A):c.4638C>T (p.Asn1546=) rs771217469 0.00006
NM_001244008.2(KIF1A):c.5092G>A (p.Val1698Met) rs769279843 0.00006
NM_001244008.2(KIF1A):c.883-3C>T rs111507743 0.00006
NM_001244008.2(KIF1A):c.1949+7C>T rs555750413 0.00005
NM_001244008.2(KIF1A):c.1862C>T (p.Thr621Met) rs760338913 0.00004
NM_001244008.2(KIF1A):c.5322C>T (p.Ala1774=) rs745898229 0.00004
NM_001244008.2(KIF1A):c.4584C>T (p.Ser1528=) rs747267404 0.00003
NM_001244008.2(KIF1A):c.1363G>C (p.Glu455Gln) rs777894370 0.00002
NM_001244008.2(KIF1A):c.3104C>T (p.Ser1035Leu) rs764873243 0.00002
NM_001244008.2(KIF1A):c.408C>G (p.Asp136Glu) rs761179236 0.00002
NM_001244008.2(KIF1A):c.4716C>T (p.His1572=) rs375640417 0.00002
NM_001244008.2(KIF1A):c.5017G>A (p.Val1673Ile) rs774256831 0.00002
NM_001244008.2(KIF1A):c.1341+8C>T rs749268264 0.00001
NM_001244008.2(KIF1A):c.2532C>T (p.Thr844=) rs370648599 0.00001
NM_001244008.2(KIF1A):c.2954G>A (p.Arg985His) rs772779524 0.00001
NM_001244008.2(KIF1A):c.3288C>T (p.Arg1096=) rs542427011 0.00001
NM_001244008.2(KIF1A):c.3580C>T (p.Leu1194Phe) rs901485293 0.00001
NM_001244008.2(KIF1A):c.4004A>G (p.Asp1335Gly) rs747271930 0.00001
NM_001244008.2(KIF1A):c.4217G>A (p.Arg1406His) rs755301795 0.00001
NM_001244008.2(KIF1A):c.4750G>A (p.Glu1584Lys) rs770455518 0.00001
NM_001244008.2(KIF1A):c.4971C>A (p.Asp1657Glu) rs184939069 0.00001
NM_001244008.2(KIF1A):c.560C>T (p.Thr187Ile) rs370623844 0.00001
NM_001244008.2(KIF1A):c.2089GAG[6] (p.Glu701dup) rs771003443
NM_001244008.2(KIF1A):c.2721GGA[9] (p.Glu916_Glu917del) rs10594016
NM_001244008.2(KIF1A):c.311C>T (p.Ser104Phe) rs1553639010
NM_001244008.2(KIF1A):c.3219CCT[2] (p.Leu1076del) rs1167417315
NM_001244008.2(KIF1A):c.4585G>A (p.Ala1529Thr) rs572923181
NM_001244008.2(KIF1A):c.4794A>T (p.Leu1598=) rs753060457
NM_001244008.2(KIF1A):c.4812C>T (p.Thr1604=) rs76974316
NM_001244008.2(KIF1A):c.5021+1G>C rs797045653
NM_001244008.2(KIF1A):c.53G>A (p.Arg18Gln) rs1056534650
NM_001244008.2(KIF1A):c.666C>T (p.Asn222=) rs797045654

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