ClinVar Miner

List of variants reported as uncertain significance for Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_015721.3(GEMIN4):c.1580A>G (p.Asn527Ser) rs528143072 0.00006
NM_015721.3(GEMIN4):c.3094C>T (p.Gln1032Ter) rs574891003 0.00004
NM_015721.3(GEMIN4):c.1787C>T (p.Pro596Leu) rs766254914 0.00002
NM_015721.3(GEMIN4):c.2264C>T (p.Ser755Phe) rs369869667 0.00001
NM_015721.3(GEMIN4):c.1405A>G (p.Arg469Gly)
NM_015721.3(GEMIN4):c.1406G>A (p.Arg469Lys)
NM_015721.3(GEMIN4):c.2006_2010del (p.Leu669fs)
NM_015721.3(GEMIN4):c.2569C>G (p.Leu857Val)
NM_015721.3(GEMIN4):c.272G>A (p.Arg91Gln)
NM_015721.3(GEMIN4):c.3032G>A (p.Cys1011Tyr)
NM_015721.3(GEMIN4):c.3068G>A (p.Ser1023Asn)
NM_015721.3(GEMIN4):c.557C>T (p.Ala186Val) rs2144173623
NM_015721.3(GEMIN4):c.673C>T (p.Gln225Ter) rs1904313543

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