ClinVar Miner

List of variants in gene KIF5A reported as likely benign for Hereditary spastic paraplegia 10

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu) rs113247976 0.01241
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) rs35225609 0.00394
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala) rs150672943 0.00117
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys) rs140281678 0.00074
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.2412C>T (p.Asp804=) rs145062338 0.00038
NM_004984.4(KIF5A):c.2718C>T (p.Tyr906=) rs147057295 0.00019
NM_004984.4(KIF5A):c.129+9C>T rs372131378 0.00016
NM_004984.4(KIF5A):c.1389C>T (p.Asn463=) rs112982686 0.00014
NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile) rs139801016 0.00014
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.2775C>A (p.Gly925=) rs759750438 0.00009
NM_004984.4(KIF5A):c.1926G>A (p.Ser642=) rs377649745 0.00007
NM_004984.4(KIF5A):c.2955C>T (p.Gly985=) rs202074843 0.00007
NM_004984.4(KIF5A):c.566C>T (p.Ser189Leu) rs140144799 0.00004
NM_004984.4(KIF5A):c.1866C>T (p.Thr622=) rs144382702 0.00003
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr) rs746095110 0.00002
NM_004984.4(KIF5A):c.1396G>T (p.Val466Phe)

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