ClinVar Miner

List of variants studied for Microcephaly 25, primary, autosomal recessive

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_018275.5(TRAPPC14):c.1396-43T>C rs2272337 0.53650
NM_018275.5(TRAPPC14):c.1670A>C (p.Asp557Ala) rs774828478 0.00003
NM_018275.5(TRAPPC14):c.613G>T (p.Glu205Ter) rs149225624

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