List of variants in gene KIF1A reported as benign for hereditary peripheral neuropathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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.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.(?_241656771)_(241666367_?)dup
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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