ClinVar Miner

List of variants in gene KIF5A reported by OMIM

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys) rs387907286 0.00002
NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val) rs121434444 0.00001
NM_004984.4(KIF5A):c.3020+1G>A rs1555179091 0.00001
KIF5A, 1-BP DEL, 2934G
NM_004984.4(KIF5A):c.2854del (p.Gln952fs) rs1057519078
NM_004984.4(KIF5A):c.2922del (p.Cys975fs) rs1057517673
NM_004984.4(KIF5A):c.2993-3C>T rs1402429085
NM_004984.4(KIF5A):c.3019A>G (p.Arg1007Gly) rs1555179087
NM_004984.4(KIF5A):c.3020+2T>A rs1218712729
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln) rs387907287
NM_004984.4(KIF5A):c.694G>A (p.Asp232Asn) rs690016545
NM_004984.4(KIF5A):c.704G>A (p.Gly235Glu) rs387907289
NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys) rs387907285
NM_004984.4(KIF5A):c.767A>G (p.Asn256Ser) rs121434441
NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys) rs121434443
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys) rs121434442
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288

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