ClinVar Miner

List of variants reported as pathogenic for Microcephaly 7, primary, autosomal recessive

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001048166.1(STIL):c.453+5G>A rs863225464 0.00001
NM_001048166.1(STIL):c.2393T>G (p.Leu798Trp) rs398122976
NM_001048166.1(STIL):c.2829+1G>A rs199422206
NM_001048166.1(STIL):c.3658del (p.Leu1219_Val1220insTer) rs199422207
NM_001048166.1(STIL):c.3718C>T (p.Gln1240Ter) rs121918609

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