List of variants in gene KIF14 studied for Meckel syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

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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