ClinVar Miner

List of variants reported as uncertain significance for Short stature-brachydactyly-obesity-global developmental delay syndrome by New York Genome Center

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_019023.5(PRMT7):c.1652G>A (p.Arg551His) rs148768244 0.00031
NM_019023.5(PRMT7):c.2029G>A (p.Asp677Asn) rs368511164 0.00029
NM_019023.5(PRMT7):c.542A>G (p.Tyr181Cys) rs751566875 0.00001
NM_019023.5(PRMT7):c.-218-3C>G rs2543549320
NM_019023.5(PRMT7):c.1651-8G>A rs764519451
NM_019023.5(PRMT7):c.254C>A (p.Ala85Glu) rs1243665152

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