ClinVar Miner

List of variants in gene KIF5A reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_004984.4(KIF5A):c.152G>A (p.Arg51His) rs773336059 0.00010
NM_004984.4(KIF5A):c.1283T>G (p.Leu428Arg) rs370132723 0.00004
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.1870C>T (p.Arg624Trp) rs748248329 0.00002
NM_004984.4(KIF5A):c.2006C>A (p.Ala669Asp) rs753975521 0.00002
NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys) rs387907286 0.00002
NM_004984.4(KIF5A):c.1762C>T (p.Arg588Ter) rs1555178348 0.00001
NM_004984.4(KIF5A):c.1842G>C (p.Glu614Asp) rs757985743 0.00001
NM_004984.4(KIF5A):c.1849C>T (p.Arg617Cys) rs202045039 0.00001
NM_004984.4(KIF5A):c.1867G>A (p.Gly623Arg) rs1882386176 0.00001
NM_004984.4(KIF5A):c.2183T>C (p.Ile728Thr) rs757751684 0.00001
NM_004984.4(KIF5A):c.236A>G (p.Asn79Ser) rs1299838179 0.00001
NM_004984.4(KIF5A):c.2546G>A (p.Arg849His) rs765503816 0.00001
NM_004984.4(KIF5A):c.1153G>A (p.Glu385Lys) rs753854351
NM_004984.4(KIF5A):c.1156G>A (p.Glu386Lys)
NM_004984.4(KIF5A):c.1156G>C (p.Glu386Gln) rs1052752751
NM_004984.4(KIF5A):c.1293+5G>A
NM_004984.4(KIF5A):c.1341G>T (p.Gln447His)
NM_004984.4(KIF5A):c.1352A>C (p.Asp451Ala) rs2140164755
NM_004984.4(KIF5A):c.1771A>G (p.Ile591Val)
NM_004984.4(KIF5A):c.1793T>C (p.Val598Ala)
NM_004984.4(KIF5A):c.1811G>A (p.Arg604Gln) rs931757596
NM_004984.4(KIF5A):c.2126C>T (p.Ala709Val) rs368671947
NM_004984.4(KIF5A):c.2162T>G (p.Ile721Ser) rs879254299
NM_004984.4(KIF5A):c.2174A>C (p.Gln725Pro) rs879254315
NM_004984.4(KIF5A):c.2659A>T (p.Met887Leu)
NM_004984.4(KIF5A):c.269C>T (p.Ser90Leu) rs1060502524
NM_004984.4(KIF5A):c.2816G>A (p.Arg939Gln)
NM_004984.4(KIF5A):c.2960T>C (p.Leu987Ser)
NM_004984.4(KIF5A):c.3070C>T (p.Pro1024Ser)
NM_004984.4(KIF5A):c.472G>A (p.Glu158Lys)
NM_004984.4(KIF5A):c.49C>T (p.Arg17Trp) rs2140150123
NM_004984.4(KIF5A):c.502-1G>C rs2140161193
NM_004984.4(KIF5A):c.515G>A (p.Arg172His) rs1882088063
NM_004984.4(KIF5A):c.526A>G (p.Ser176Gly)
NM_004984.4(KIF5A):c.551T>C (p.Ile184Thr) rs1882089233
NM_004984.4(KIF5A):c.587C>T (p.Thr196Ile) rs2140161296
NM_004984.4(KIF5A):c.598G>A (p.Glu200Lys) rs879254292
NM_004984.4(KIF5A):c.65C>T (p.Ala22Val) rs745558435
NM_004984.4(KIF5A):c.76C>T (p.Arg26Trp)
NM_004984.4(KIF5A):c.959T>G (p.Phe320Cys) rs2140162988

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