ClinVar Miner

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

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Total variants: 9
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NM_000398.7(CYB5R3):c.890G>A (p.Arg297His)
NM_001346813.1(ARID1B):c.5653C>T (p.Arg1885Cys)
NM_002241.5(KCNJ10):c.755C>G (p.Pro252Arg)
NM_007347.5(AP4E1):c.1694C>T (p.Ala565Val) rs142762839
NM_014285.7(EXOSC2):c.673-1G>T rs1465736368
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948
NM_032193.3(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_176787.5(PIGN):c.377T>C (p.Leu126Pro)

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