ClinVar Miner

Variants in gene KIF5A 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: 32
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HGVS dbSNP gnomAD frequency
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=) rs139091551 0.00070
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) rs143326964 0.00060
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp) rs140929639 0.00056
NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys) rs748402153 0.00012
NM_004984.4(KIF5A):c.152G>A (p.Arg51His) rs773336059 0.00010
NM_004984.4(KIF5A):c.1932G>A (p.Thr644=) rs370644634 0.00010
NM_004984.4(KIF5A):c.2672G>A (p.Arg891His) rs767911747 0.00008
NM_004984.4(KIF5A):c.2803C>T (p.Pro935Ser) rs764612223 0.00004
NM_004984.4(KIF5A):c.425A>G (p.Lys142Arg) rs758987045 0.00003
NM_004984.4(KIF5A):c.750C>T (p.Asp250=) rs375693647 0.00003
NM_004984.4(KIF5A):c.1076C>T (p.Thr359Met) rs774586838 0.00002
NM_004984.4(KIF5A):c.1222C>T (p.Arg408Cys) rs767181570 0.00002
NM_004984.4(KIF5A):c.1870C>T (p.Arg624Trp) rs748248329 0.00002
NM_004984.4(KIF5A):c.2134C>T (p.Arg712Trp) rs779614400 0.00002
NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys) rs387907286 0.00002
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr) rs746095110 0.00002
NM_004984.4(KIF5A):c.2990A>T (p.Asn997Ile) rs146202502 0.00002
NM_004984.4(KIF5A):c.927T>C (p.Tyr309=) rs755457098 0.00002
NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val) rs121434444 0.00001
NM_004984.4(KIF5A):c.1311A>G (p.Gln437=) rs770297402 0.00001
NM_004984.4(KIF5A):c.2183T>C (p.Ile728Thr) rs757751684 0.00001
NM_004984.4(KIF5A):c.2546G>A (p.Arg849His) rs765503816 0.00001
NM_004984.4(KIF5A):c.2993-6C>T rs1057522322 0.00001
NM_004984.4(KIF5A):c.3032C>T (p.Pro1011Leu) rs751496558 0.00001
NM_004984.4(KIF5A):c.1191C>T (p.Thr397=) rs1064797169
NM_004984.4(KIF5A):c.1362+7G>A rs1349376862
NM_004984.4(KIF5A):c.1603C>T (p.Arg535Trp) rs1055742325
NM_004984.4(KIF5A):c.1717-6C>T rs61935711
NM_004984.4(KIF5A):c.2053A>G (p.Lys685Glu)
NM_004984.4(KIF5A):c.2065A>G (p.Thr689Ala)
NM_004984.4(KIF5A):c.2816G>A (p.Arg939Gln)
NM_004984.4(KIF5A):c.2957C>G (p.Pro986Arg) rs113247976

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