List of variants in gene KIF14 reported as pathogenic for Microcephaly 20, primary, autosomal recessive

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_014875.3(KIF14):c.103C>T (p.Arg35Ter)	rs774318019	0.00001
NM_014875.3(KIF14):c.2354_2355del (p.Lys785fs)	rs1558080206
NM_014875.3(KIF14):c.246del (p.Asn83fs)	rs1553264036
NM_014875.3(KIF14):c.2480_2482del (p.Val827del)	rs1553259539
NM_014875.3(KIF14):c.2545C>G (p.His849Asp)	rs1553259528
NM_014875.3(KIF14):c.263T>A (p.Leu88Ter)	rs1553264033
NM_014875.3(KIF14):c.3662G>T (p.Gly1221Val)	rs981349334
NM_014875.3(KIF14):c.3910C>T (p.Gln1304Ter)
NM_014875.3(KIF14):c.4071G>A (p.Gln1357=)	rs1553254322
NM_014875.3(KIF14):c.4432del (p.Ser1478fs)	rs1553253022
NM_014875.3(KIF14):c.4475del (p.Asp1492fs)	rs2527210283

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