ClinVar Miner

List of variants reported for Neurodevelopmental delay by Kariminejad - Najmabadi Pathology & Genetics Center

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000398.7(CYB5R3):c.890G>A (p.Arg297His) rs76458556 0.00145
NM_001374828.1(ARID1B):c.5902C>T (p.Arg1968Cys) rs766931727 0.00001
NM_007347.5(AP4E1):c.1694C>T (p.Ala565Val) rs142762839
NM_012414.4(RAB3GAP2):c.961-2A>G rs771863504
NM_014285.7(EXOSC2):c.673-1G>T rs1465736368
NM_176787.5(PIGN):c.377T>C (p.Leu126Pro) rs1599653706

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