ClinVar Miner

Variants in gene KIF1A with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 36
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HGVS dbSNP gnomAD frequency
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.4889G>A (p.Arg1630Gln) rs191428830 0.00228
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.1208-40G>A rs375833834 0.00073
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=) rs200149062 0.00045
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.5168C>T (p.Ala1723Val) rs199804623 0.00026
NM_001244008.2(KIF1A):c.4744-5C>T rs117815481 0.00024
NM_001244008.2(KIF1A):c.5155G>A (p.Val1719Met) rs200511467 0.00021
NM_001244008.2(KIF1A):c.882+8G>A rs376552408 0.00019
NM_001244008.2(KIF1A):c.3202+8G>A rs371620074 0.00018
NM_001244008.2(KIF1A):c.4554C>T (p.Ser1518=) rs775395101 0.00018
NM_001244008.2(KIF1A):c.4771C>T (p.Arg1591Trp) rs201139273 0.00016
NM_001244008.2(KIF1A):c.4374C>T (p.Gly1458=) rs375309925 0.00009
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln) rs376658420 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.3928G>A (p.Asp1310Asn) rs371252476 0.00005
NM_001244008.2(KIF1A):c.4666-5C>T rs532806732 0.00005
NM_001244008.2(KIF1A):c.3703G>A (p.Asp1235Asn) rs200257048 0.00003
NM_001244008.2(KIF1A):c.4584C>T (p.Ser1528=) rs747267404 0.00003
NM_001244008.2(KIF1A):c.3288C>T (p.Arg1096=) rs542427011 0.00001
NM_001244008.2(KIF1A):c.4648C>T (p.Arg1550Trp) rs1468401006 0.00001
NM_001244008.2(KIF1A):c.4971C>A (p.Asp1657Glu) rs184939069 0.00001
NM_001244008.2(KIF1A):c.2493G>T (p.Val831=) rs201861261
NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup) rs10594016
NM_001244008.2(KIF1A):c.2721GGA[9] (p.Glu916_Glu917del) rs10594016
NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=) rs527977882
NM_001244008.2(KIF1A):c.720+5G>C rs377502239

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