ClinVar Miner

List of variants studied for Microcephaly 14, primary, autosomal recessive by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_194292.3(SASS6):c.127-13A>G rs1406541512 0.00003
NM_194292.3(SASS6):c.185T>C (p.Ile62Thr) rs876661307
NM_194292.3(SASS6):c.1867+2T>A rs1651181046

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