ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_014875.3(KIF14):c.2354_2355del (p.Lys785fs)
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.4071G>A (p.Gln1357=) rs1553254322
NM_014875.3(KIF14):c.4432del (p.Ser1478fs) rs1553253022
NM_014875.3(KIF14):c.4475del (p.Asp1492fs)

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