ClinVar Miner

List of variants reported as likely pathogenic for Global developmental delay; Seizures

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Total variants: 9
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HGVS dbSNP
NM_003042.4(SLC6A1):c.167C>T (p.Ser56Phe) rs1574891108
NM_004247.4(EFTUD2):c.2047A>T (p.Asn683Tyr) rs1057518932
NM_015557.3(CHD5):c.3407G>A (p.Arg1136His)
NM_015557.3(CHD5):c.612dup (p.Ser205fs)
NM_015937.6(PIGT):c.1079G>T (p.Gly360Val) rs1277383877
NM_020536.4(KAT14):c.1399G>A (p.Glu467Lys) rs771882905
NM_033517.1(SHANK3):c.271C>T (p.Arg91Ter) rs1569097392
NM_033550.4(TP53RK):c.128C>T (p.Ala43Val) rs886913294
NM_033550.4(TP53RK):c.727C>T (p.Arg243Cys) rs553547069

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