ClinVar Miner

List of variants in gene KIF5A reported as pathogenic

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Gene type:
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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_004984.4(KIF5A):c.2147G>A (p.Arg716Gln) rs554894381 0.00005
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.1762C>T (p.Arg588Ter) rs1555178348 0.00001
NM_004984.4(KIF5A):c.3020+1G>A rs1555179091 0.00001
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp) rs1012819766 0.00001
KIF5A, 1-BP DEL, 2934G
NM_004984.4(KIF5A):c.1272_1273del (p.Leu424_Tyr425insTer)
NM_004984.4(KIF5A):c.1342C>T (p.Gln448Ter)
NM_004984.4(KIF5A):c.1378C>T (p.Arg460Ter) rs1882272161
NM_004984.4(KIF5A):c.1636C>T (p.Arg546Ter) rs185438769
NM_004984.4(KIF5A):c.1858G>T (p.Glu620Ter) rs2140167500
NM_004984.4(KIF5A):c.1901_1905delCTCAG (p.Ser634_Gln635insTer)
NM_004984.4(KIF5A):c.2030_2031del (p.Val677fs)
NM_004984.4(KIF5A):c.2068C>T (p.Gln690Ter)
NM_004984.4(KIF5A):c.2314C>T (p.Arg772Ter) rs1555178616
NM_004984.4(KIF5A):c.2590C>T (p.Arg864Ter) rs1882578572
NM_004984.4(KIF5A):c.2608G>T (p.Glu870Ter) rs1594925773
NM_004984.4(KIF5A):c.263C>T (p.Thr88Ile)
NM_004984.4(KIF5A):c.2811del (p.Thr938fs) rs1882598771
NM_004984.4(KIF5A):c.2854del (p.Gln952fs) rs1057519078
NM_004984.4(KIF5A):c.2913_2914insA (p.Ala972fs) rs1565705251
NM_004984.4(KIF5A):c.2922del (p.Cys975fs) rs1057517673
NM_004984.4(KIF5A):c.2993-3C>T rs1402429085
NM_004984.4(KIF5A):c.3020+1G>C rs1555179091
NM_004984.4(KIF5A):c.395A>G (p.Lys132Arg) rs2140159183
NM_004984.4(KIF5A):c.416A>G (p.Tyr139Cys) rs2140159368
NM_004984.4(KIF5A):c.43C>T (p.Arg15Ter) rs2140150119
NM_004984.4(KIF5A):c.484C>T (p.Arg162Trp) rs748551786
NM_004984.4(KIF5A):c.500del (p.Lys167fs)
NM_004984.4(KIF5A):c.552_555del (p.Ile184fs)
NM_004984.4(KIF5A):c.572G>A (p.Arg191His) rs1488871976
NM_004984.4(KIF5A):c.604A>G (p.Ser202Gly) rs1057524193
NM_004984.4(KIF5A):c.605G>A (p.Ser202Asn) rs1057519195
NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp) rs1555177629
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.728G>A (p.Gly243Glu) rs2140162541
NM_004984.4(KIF5A):c.737G>T (p.Gly246Val)
NM_004984.4(KIF5A):c.745C>G (p.Leu249Val)
NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys) rs387907285
NM_004984.4(KIF5A):c.763A>G (p.Ile255Val) rs2140162576
NM_004984.4(KIF5A):c.765C>G (p.Ile255Met) rs2140162581
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.833C>T (p.Pro278Leu) rs1555177824
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys) rs121434442
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288
NM_004984.4(KIF5A):c.854C>T (p.Thr285Ile) rs2140162883
NM_004984.4(KIF5A):c.889C>T (p.Arg297Trp) rs1416085161

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