ClinVar Miner

List of variants in gene KIF1A reported as benign for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_001244008.2(KIF1A):c.991T>C (p.Leu331=) rs1063353 0.45235
NM_001244008.2(KIF1A):c.864+16C>T rs2288750 0.27959
NM_001244008.2(KIF1A):c.3641-8C>T rs56024577 0.22160
NM_001244008.2(KIF1A):c.4319-8C>T rs1529663 0.04602
NM_001244008.2(KIF1A):c.4666-18C>T rs80067787 0.03770
NM_001244008.2(KIF1A):c.234C>T (p.Gly78=) rs61744930 0.03600
NM_001244008.2(KIF1A):c.2235C>T (p.Ala745=) rs35945835 0.03379
NM_001244008.2(KIF1A):c.2977+13C>T rs116600932 0.02829
NM_001244008.2(KIF1A):c.4143G>A (p.Pro1381=) rs2241683 0.02108
NM_001244008.2(KIF1A):c.393C>T (p.Asn131=) rs35139906 0.01973
NM_001244008.2(KIF1A):c.3282C>T (p.His1094=) rs35664935 0.01793
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.183+15C>T rs73102676 0.01412
NM_001244008.2(KIF1A):c.2859-18G>A rs150076186 0.01335
NM_001244008.2(KIF1A):c.363+16C>T rs7594569 0.01003
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.4812C>A (p.Thr1604=) rs76974316 0.00862
NM_001244008.2(KIF1A):c.3063+17C>T rs116040950 0.00839
NM_001244008.2(KIF1A):c.5021+16C>T rs138847355 0.00783
NM_001244008.2(KIF1A):c.4318+17C>T rs138964333 0.00704
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.2266-20G>A rs141243762 0.00296
NM_001244008.2(KIF1A):c.4917G>A (p.Leu1639=) rs187810230 0.00252
NM_001244008.2(KIF1A):c.1421+19G>A rs200809257 0.00233
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.2898C>G (p.Pro966=) rs140783695 0.00209
NM_001244008.2(KIF1A):c.5043G>A (p.Gly1681=) rs143815273 0.00194
NM_001244008.2(KIF1A):c.2958G>C (p.Val986=) rs186881889 0.00175
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met) rs183359489 0.00160
NM_001244008.2(KIF1A):c.2445-8C>T rs200705912 0.00145
NM_001244008.2(KIF1A):c.5025G>A (p.Pro1675=) rs148176695 0.00106
NM_001244008.2(KIF1A):c.4875G>A (p.Pro1625=) rs201418175 0.00099
NM_001244008.2(KIF1A):c.3749+13G>T rs373544465 0.00076
NM_001244008.2(KIF1A):c.618G>A (p.Ala206=) rs137913879 0.00059
NM_001244008.2(KIF1A):c.3672G>A (p.Arg1224=) rs371024769 0.00053
NM_001244008.2(KIF1A):c.849C>T (p.Ser283=) rs187442951 0.00053
NM_001244008.2(KIF1A):c.405C>T (p.Asn135=) rs151212200 0.00036
NM_001244008.2(KIF1A):c.3053A>C (p.His1018Pro) rs201846946 0.00023
NM_001244008.2(KIF1A):c.2475C>T (p.Tyr825=) rs199996308 0.00021
NM_001244008.2(KIF1A):c.2582+4G>A rs572013653 0.00018
NM_001244008.2(KIF1A):c.3202+8G>A rs371620074 0.00018
NM_001244008.2(KIF1A):c.364-14C>G rs376290711 0.00018
NM_001244008.2(KIF1A):c.3681G>A (p.Pro1227=) rs370913170 0.00018
NM_001244008.2(KIF1A):c.4554C>T (p.Ser1518=) rs775395101 0.00018
NM_001244008.2(KIF1A):c.4249T>A (p.Ser1417Thr) rs200855792 0.00016
NM_001244008.2(KIF1A):c.258T>C (p.Phe86=) rs183284555 0.00014
NM_001244008.2(KIF1A):c.3094A>T (p.Met1032Leu) rs370378060 0.00014
NM_001244008.2(KIF1A):c.3671G>A (p.Arg1224Gln) rs375993206 0.00011
NM_001244008.2(KIF1A):c.2925C>T (p.Ser975=) rs556611351 0.00009
NM_001244008.2(KIF1A):c.3465C>T (p.Asn1155=) rs371782922 0.00009
NM_001244008.2(KIF1A):c.4374C>T (p.Gly1458=) rs375309925 0.00009
NM_001244008.2(KIF1A):c.1596C>T (p.Gly532=) rs754916421 0.00008
NM_001244008.2(KIF1A):c.5087G>A (p.Arg1696His) rs756912340 0.00007
NM_001244008.2(KIF1A):c.2078C>T (p.Pro693Leu) rs756842462 0.00006
NM_001244008.2(KIF1A):c.3213A>C (p.Pro1071=) rs201232478 0.00006
NM_001244008.2(KIF1A):c.4601C>T (p.Ser1534Leu) rs371486580 0.00006
NM_001244008.2(KIF1A):c.4595C>T (p.Pro1532Leu) rs779578515 0.00005
NM_001244008.2(KIF1A):c.5131G>A (p.Asp1711Asn) rs199574770 0.00005
NM_001244008.2(KIF1A):c.5150G>A (p.Arg1717Gln) rs760970824 0.00005
NM_001244008.2(KIF1A):c.4520G>A (p.Arg1507Gln) rs750045020 0.00004
NM_001244008.2(KIF1A):c.4626G>A (p.Leu1542=) rs759679465 0.00004
NM_001244008.2(KIF1A):c.850G>A (p.Ala284Thr) rs756136593 0.00004
NM_001244008.2(KIF1A):c.4977G>T (p.Glu1659Asp) rs992259915 0.00003
NM_001244008.2(KIF1A):c.4984C>T (p.Arg1662Cys) rs372226807 0.00003
NM_001244008.2(KIF1A):c.2344A>G (p.Lys782Glu) rs569071678 0.00002
NM_001244008.2(KIF1A):c.3721G>A (p.Glu1241Lys) rs770190085 0.00002
NM_001244008.2(KIF1A):c.4142C>T (p.Pro1381Leu) rs766841187 0.00002
NM_001244008.2(KIF1A):c.423C>T (p.Ser141=) rs565992344 0.00002
NM_001244008.2(KIF1A):c.231C>T (p.Ile77=) rs530669240 0.00001
NM_001244008.2(KIF1A):c.2582+7G>A rs781439626 0.00001
NM_001244008.2(KIF1A):c.4519C>T (p.Arg1507Trp) rs755721997 0.00001
NM_001244008.2(KIF1A):c.4952C>T (p.Ala1651Val) rs369475699 0.00001
NC_000002.11:g.(?_241656761)_(241709143_?)del
NC_000002.11:g.(?_241656781)_(241709133_?)dup
NC_000002.11:g.(?_241656781)_(241709143_?)dup
NM_001244008.2(KIF1A):c.1421+9C>T rs372601809
NM_001244008.2(KIF1A):c.1506C>T (p.His502=)
NM_001244008.2(KIF1A):c.1950-7del rs2125904899
NM_001244008.2(KIF1A):c.2022+17del
NM_001244008.2(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_001244008.2(KIF1A):c.3072C>G (p.Ser1024=) rs73102625
NM_001244008.2(KIF1A):c.3072C>T (p.Ser1024=) rs73102625
NM_001244008.2(KIF1A):c.3132C>A (p.Ile1044=) rs373045276
NM_001244008.2(KIF1A):c.3327G>A (p.Gln1109=) rs752843807
NM_001244008.2(KIF1A):c.363+15del
NM_001244008.2(KIF1A):c.363+16C>G rs7594569
NM_001244008.2(KIF1A):c.363+20C>G rs199804274
NM_001244008.2(KIF1A):c.364-11del
NM_001244008.2(KIF1A):c.364-11dup
NM_001244008.2(KIF1A):c.3915C>T (p.Asn1305=)
NM_001244008.2(KIF1A):c.4447C>T (p.Leu1483=)
NM_001244008.2(KIF1A):c.4639G>C (p.Glu1547Gln) rs537893174
NM_001244008.2(KIF1A):c.4783A>G (p.Met1595Val)
NM_001244008.2(KIF1A):c.4788C>T (p.Ser1596=)
NM_001244008.2(KIF1A):c.4888C>T (p.Arg1630Trp) rs202072706
NM_001244008.2(KIF1A):c.865-24CT[2] rs140674901

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