ClinVar Miner

List of variants in gene KIF14 studied for congenital limb malformation

Included ClinVar conditions (336):
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_014875.3(KIF14):c.3096A>G (p.Glu1032=) rs6665951 0.79936
NM_014875.3(KIF14):c.4020G>A (p.Glu1340=) rs7543730 0.53314
NM_014875.3(KIF14):c.4897C>G (p.Pro1633Ala) rs12120084 0.28388
NM_014875.3(KIF14):c.4842C>T (p.Asp1614=) rs12024960 0.00284
NM_014875.3(KIF14):c.1087G>A (p.Val363Ile) rs77828651 0.00249
NM_014875.3(KIF14):c.1147A>G (p.Met383Val) rs371446188 0.00008
NM_014875.3(KIF14):c.1813G>T (p.Ala605Ser) rs370591311 0.00008
NM_014875.3(KIF14):c.3114+3A>C rs776623187 0.00002
NM_014875.3(KIF14):c.4385G>A (p.Gly1462Glu) rs759119778 0.00001
NM_014875.3(KIF14):c.1270T>A (p.Tyr424Asn)
NM_014875.3(KIF14):c.1514T>C (p.Leu505Pro) rs1660016633
NM_014875.3(KIF14):c.1750_1751del (p.Glu584fs) rs786201012
NM_014875.3(KIF14):c.1780A>T (p.Arg594Ter) rs786201013
NM_014875.3(KIF14):c.4276A>C (p.Lys1426Gln) rs1085307854

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