ClinVar Miner

List of variants studied for Short stature, oligodontia, dysmorphic facies, and motor delay by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_032305.3(POLR3GL):c.-41-1G>A rs782661984 0.00001
NM_032305.3(POLR3GL):c.326-1G>A rs1553763618 0.00001
NM_032305.3(POLR3GL):c.358C>T (p.Arg120Ter) rs1401599439 0.00001

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